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Statements

Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
dbr:Cataract
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
dbr:Muteness
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
dbr:Mosaic_Down_Syndrome
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dbo:wikiPageRedirects
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Subject Item
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Subject Item
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Subject Item
dbr:Basmisanil
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Subject Item
dbr:Benton_Park_School
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Subject Item
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Subject Item
dbr:Big_Brother_(Glee)
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Subject Item
dbr:Billy_Mitchell_(EastEnders)
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
dbr:Brandon_Matthews
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Subject Item
dbr:Breastfeeding
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Subject Item
dbr:Brendan_Clarke-Smith
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Subject Item
dbr:Brendan_O'Connor_(media_personality)
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Subject Item
dbr:Brevard_County,_Florida
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Subject Item
dbr:Brian_Burke_(Australian_politician)
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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Subject Item
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rdfs:label
唐氏综合症 Syndroom van Down Синдром Дауна Síndrome de Down 다운 증후군 Down-sindromo Trisomie 21 متلازمة داون Downs syndrom Down-en sindrome Sindrome di Down Zespół Downa Sindrom Down Downův syndrom ダウン症候群 Синдром Дауна Down-Syndrom Síndrome de Down Down syndrome Siondróm Down Síndrome de Down Σύνδρομο Down
rdfs:comment
다운 증후군(영어: Down Syndrome), 또는 21번 삼염색체성(Trisomy)은 유전병의 일종으로, 21번 염색체가 정상보다 많이 발현 될 경우에 나타나는 질병이다. 다운 증후군은 신체적 발달의 지연을 일으키며 안면 기형과 지적 장애를 동반한다. 다운 증후군을 가진 청소년의 평균 지능 지수는 대략적으로9살이다. 다운 증후군을 가진 부모의 염색체는 대부분 정상이지만 잉여 염색체가 확률에 의해 추가 발현하게 된다. 20세 산모에게서 0.1%의 확률을 보이지만 45세에 이르러 3%의 가능성을 보이게 된다. 후천적, 환경적으로 인한 영향에 대해서는 알려진 바가 없다. 다운 증후군은 산모가 임신 도중에 태아 산전 진단을 통하여 확인할 수 있으며 출산 후 직접적인 유전자 검사를 통해 판별받는다. 다운 증후군은 인간의 가장 흔한 삼염색체성으로 알려져 있다. 1000명의 아기당 1명 꼴로 발현되며 2015년 한해에만 5백만명의 다운 증후군 유아가 발생했고 그로인해 27,000명이 사망했다. 唐氏综合症(英語:Down syndrome、Doen's syndrome)也称为21三体综合征,是由于存在额外的第三条21号染色体(正常为两条)或其一部分部而引起的一种遗传性疾病。它通常伴随身体发育迟缓、轻度至中度智力障碍和。患有唐氏综合征的年轻人的平均智商为50,相当于8-9岁儿童的心智能力,但具体情况差异很大。 受影响个体的父母通常基因正常。其发病概率在母亲为20岁时不到0.1%,但45岁时增加到3%。一般认为额外的染色体是偶然出现的,没有已知的行为活动或环境因素会改变其出现率。唐氏综合征可以在怀孕期间通过产前筛查然后进行诊断测试来识别,或者在出生后通过直接观察和基因檢測来识别。自从引入筛查以来,唐氏综合征的妊娠通常会被终止。 唐氏综合征无法治愈。教育和适当的护理已被证明可以提高生活质量。一些患有唐氏综合征的儿童在典型的学校课程中接受教育,而另一些则需要更专业的教育。一些患有唐氏综合征的人从高中毕业,还有少数接受了高等教育。在成年期,美国约有20%的患者以某种身份从事有偿工作,其中许多人需要有庇护的工作环境。通常需要在财务和法律事务方面的支持。在有适当医疗保健的发达国家,患者预期寿命约为50至60岁。患者应当定期筛查唐氏综合征中常见的健康问题。 Синдро́м Да́уна (трисоми́я по хромосоме 21) — одна из форм геномной патологии, при которой чаще всего кариотип представлен 47 хромосомами вместо нормальных 46, поскольку хромосомы 21-й пары, вместо нормальных двух, представлены тремя копиями (см. также плоидность). Когнитивные и физические проявления варьируются от лёгких до тяжёлых. Слово «синдром» означает набор признаков или характерных черт. При употреблении этого термина предпочтительнее форма «синдром Дауна», а не «болезнь Дауна». Синдро́м Да́уна (трисомія за 21 хромосомою) — генетична аномалія, яку спричинює присутність додаткової хромосоми у 21 парі. Синдром Дауна є хромосомною аномалією (не є хворобою і не лікується), якій притаманна додаткова хромосома 21 — цілковита (трисомія 21) або часткова (внаслідок транслокації). Такі діти мають 47 хромосом у каріотипі замість звичних 46. Їм притаманна характерна зовнішність, підвищена можливість появи певного спектра захворювань, певна розумова відсталість, яка спричинює повільніший розумовий розвиток на фоні здорових особин та гіршу соціальну адаптацію. Síndrome de Down, também denominada trissomia 21 ou T21, é uma alteração genética causada pela presença integral ou parcial de uma terceira cópia do cromossoma 21. A condição está geralmente associada a atraso no desenvolvimento infantil, feições faciais características e deficiência intelectual leve a moderada. متلازمة داون أو التثالث الصبغي 21 أو التثالث الصبغي G، متلازمة صبغوية تنتج عن تغير في الكروموسومات؛ حيث توجد نسخة إضافية من زوج كروموسوم 21 أو جزء منه في الخلايا، مما يسبب تغيراً في المورّثات. تتسم الحالة بوجود تغييرات كبيرة أو صغيرة في بنية الجسم. يصاحب المتلازمة غالباً ضعف في القدرات الذهنية والنمو البدني، وبمظاهر وجهية مميزة. يمكن الكشف عن المتلازمة أثناء الحمل عن طريق بزل السلى. كما يمكن أيضاً الكشف عن هذه المتلازمة بفحص الكروموسومات الجنينية في دم الأم دون الحاجة لبزل السلي. كما تساعد الأشعة الصوتية التفصيلية على عمر 11-14 أسبوعاً وعلى عمر 18-22 أسبوعياً في تقدير احتمال إصابة الجنين بمتلازمة داون. El síndrome de Down (SD) es un trastorno genético causado por una copia extra del cromosoma 21 (o una parte) en vez de los dos. Por ello, se denomina también trisomía del par 21. Se caracteriza por un grado variable de discapacidad intelectual y unos rasgos físicos que le dan un aspecto reconocible. Debe su nombre a John Langdon Down, que fue el primero en describir esta alteración genética en 1866, aunque nunca llegó a descubrir las causas que la producían. En julio de 1958, un joven investigador llamado Jérôme Lejeune descubrió que el síndrome es una alteración en el mencionado par de cromosomas. La trisomie 21 (ou syndrome de Down) est une anomalie chromosomique congénitale provoquée par la présence d'un chromosome surnuméraire pour la 21e paire. Ses signes cliniques sont très nets, un retard cognitif est observé, associé à des modifications morphologiques particulières. C'est l'une des anomalies génétiques les plus communes aux États-Unis en 1996, avec une prévalence de 9,2 pour 10 000 naissances vivantes. L’incidence est d'environ 1 pour 770 naissances, toutes grossesses confondues, et varie en fonction de l'âge de la mère : environ 1/1 500 à 20 ans, 1/900 à 30 ans et 1/100 à 40 ans. Cette anomalie ne doit pas être confondue avec d'autres trisomies comme le syndrome XYY ou l'anomalie XXY qui ont des manifestation cliniques très différentes. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. Trisomie 21 oder Down-Syndrom ist eine Chromosomenanomalie, die sich in einer Kombination geistiger Behinderung und körperlicher Fehlbildungen in unterschiedlicher Ausprägung und Stärke zeigt. Die Ursache liegt in einer Besonderheit an den Erbanlagen des betroffenen Menschen (Genommutation, Chromosomenaberration oder Aneuploidie). Dabei ist das Chromosom 21 (Chromosomen sind Bestandteile von Zellen, auf denen Erbinformationen gespeichert sind) oder Teile davon dreifach statt doppelt vorhanden. Diese Chromosomen-Störung wird deshalb Trisomie 21 genannt (von altgriechisch τρία tría, deutsch ‚drei, dreierlei‘ und σῶμα sôma, deutsch ‚Körper‘; hier: Chromosomenkörper Nr. 21, als Träger der Erbinformationen). Verdreifachungen von Chromosomen können entstehen, wenn die Zellteilung so verläuft, da Is riocht géiniteach é siondróm Down (nó trísómacht 21) agus siondróm comhbheirthe: crómasóm breise is cúis leis an riocht. Bíonn leibhéal an mhíchumais fhoghlama ghinearálta idir míchumas éadrom agus míchumas domhain. Cé go mbíonn saintréithe fisiceacha áirithe comónta ar dhaoine a bhfuil siondróm Down orthu, is daoine iontu féin iad i gcónaí. Down-sindromo aŭ Daŭn-sindromo (aŭ trisomio 21) estas kromosoma malsano de la homo, kiun kaŭzas unu aldona kromosomo, ligata al la 21-a kromosoma paro (tiel ke estas tri kromosomoj 21). La malsanulo tiel havas ne 46, sed 47 kromosomojn. La Down-sindromuloj neniam iĝas tute sendependaj pro sia intelekta postresto, sed ili estas edukeblaj je utila laboro, efektivigebla en hejmo aŭ protektita laborejo. Oni nomis la malsanon pri John Langdon Down, kiu unue priskribis ĝin en 1866. Laŭ eksteraj simptomoj li pensis, ke ĝi estas signo de mongola raso, sed tiu estas eraro. ダウン症候群(ダウンしょうこうぐん、英: Down syndrome)またはダウン症は、体細胞の21番染色体が通常より1本多く存在し、計3本(トリソミー症)になることで発症する先天性疾患群である。多くは第1減数分裂時の不分離によって生じるほか、減数第二分裂に起こる。新生児に最も多い遺伝子疾患である。 症状としては、身体的発達の遅延、特徴的な顔つき、軽度の知的障害が特徴である。平均して8 - 9歳の精神年齢に対応する軽度から中度の知的障害であるが、それぞれのばらつきは大きく、現時点で治療法は存在しない。教育と早期ケアによりQOLが改善されることが見込まれる。 ダウン症は、ヒトにおいて最も一般的な遺伝子疾患であり、年間1,000出生あたり1人に現れる。 La sindrome di Down, più propriamente trisomia 21 e, in passato, mongolismo o mongoloidismo, è una condizione cromosomica causata dalla presenza di una terza copia (o una sua parte) del cromosoma 21. Viene anche abbreviata DS dall'acronimo del suo nome in inglese, Down syndrome. Si tratta della più comune anomalia cromosomica del genere umano, solitamente associata a un ritardo nella capacità cognitiva e nella crescita fisica, oltre che a un particolare insieme di caratteristiche del viso. Het syndroom van Down of trisomie-21 is een aangeboren afwijking die gepaard gaat met een verstandelijke beperking, typerende uitwendige kenmerken en bepaalde medische problemen, en die veroorzaakt wordt doordat het erfelijk materiaal van chromosoom 21 in drievoud voorkomt (in plaats van in tweevoud). Het syndroom komt voor op ongeveer 4,6 van de 10.000 geboortes en in alle bevolkingsgroepen. Vergelijkbare condities zijn ook bij diersoorten als chimpansees aangetroffen. La síndrome de Down (SD) és un trastorn genètic causat per la presència d'una còpia extra del cromosoma 21, o una part d'aquest, en comptes dels dos habituals (trisomia del parell 21). Es caracteritza per la presència d'un grau variable de discapacitat intel·lectual i uns trets físics peculiars que li donen un aspecte recognoscible. És la causa més freqüent de discapacitat psíquica congènita i deu el seu nom a John Langdon Haydon Down que va ser el primer a descriure aquesta alteració genètica el 1866, encara que mai va arribar a descobrir les causes que la produïen. El juliol de 1958 un jove investigador, Jérôme Lejeune, va descobrir que la síndrome és una alteració en l'esmentat parell de cromosomes. Downův syndrom, známý také jako trizomie 21, je genetická porucha způsobená přítomností celé třetí kopie 21. chromozomu nebo jeho části. Obvykle je spojena s opožděným tělesným růstem, lehkým až středně těžkým mentálním postižením a charakteristickými rysy obličeje. Průměrný inteligenční kvocient mladého dospělého člověka s Downovým syndromem je 50, což odpovídá mentálním schopnostem osmiletého nebo devítiletého dítěte, ale tato hodnota se může značně lišit. Zespół Downa (ang. Down syndrome), dawniej nazywany mongolizmem – zespół wad wrodzonych spowodowany obecnością dodatkowego materiału genetycznego chromosomu 21. Eponim pochodzi od nazwiska Johna Langdona Downa. Występowanie trisomii chromosomu 21 opisane zostało po raz pierwszy w 1959 r. przez francuskiego genetyka Jerome'a Lejeune'a Downs syndrom är ett syndrom som beror på en kromosomavvikelse. En person med Downs syndrom har tre exemplar av kromosom nummer 21 istället för det normala två, så kallad trisomi-21 (alternativt delar av den extra kromosomen). Detta leder till en utvecklingsstörning som kan variera från mycket lindrig till grav. Το σύνδρομο Down (προφέρεται Ντάουν) (ή αλλιώς Τρισωμία 21 ή Τρισωμία G) περιγράφει μια χρωμοσωμική ανωμαλία, που περικλείει ένα σύνολο χαρακτηριστικών, τα οποία υπάρχουν εκ γενετής στους φορείς της γενετικής αυτής βλάβης και αφορούν παρεκκλίσεις στη σωματική διάπλαση, τη νοητική ανάπτυξη και την ψυχοκοινωνική εξέλιξή τους. Sindrom Down (bahasa Inggris: Down syndrome) merupakan kelainan genetik yang terjadi pada kromosom 21 pada berkas q22 gen SLC5A3, yang dapat dikenal dengan melihat manifestasi klinis yang cukup khas. Kelainan yang berdampak pada keterbelakangan pertumbuhan fisik dan mental ini pertama kali dikenal pada tahun 1866 oleh Dr.John Langdon Down. Karena ciri-ciri yang tampak aneh seperti tinggi badan yang relatif pendek, kepala mengecil, hidung yang datar menyerupai orang Mongoloid maka sering juga dikenal dengan mongolisme. Pada tahun 1970an para ahli dari Amerika dan Eropa merevisi nama dari kelainan yang terjadi pada anak tersebut dengan merujuk penemu pertama kali sindrom ini dengan istilah sindrom Down dan hingga kini penyakit ini dikenal dengan istilah yang sama. Down-en sindromea edo 21 trisomia 21. kromosoma parean hiru kromosoma agertzearen ondoriozko asaldura genetikoa da, bere ezaugarriak adimen atzerapena eta bereizgarri fisiko bereziak izanik. Jaiotzetiko gabezia psikikoen artean ohikoena da eta bere izena zor zaio, berak deskribatu baitzuen asaldura hau lehen aldiz 1866an. 1958an ikerlari gazteak aurkitu zuen asaldura honen arrazoia. Gaur egun, ez dago pertsona horien gaitasun intelektuala hobetzen duen tratamendu farmakologikorik. Hala ere, familia giro eta heziketa egokiak Down sindromea duten haurren garapenean eragin positiboa dute.
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Before birth
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Delayed physical growth, characteristic facial features, mild to moderate intellectual disability
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Educational support, sheltered work environment
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Illustration of the facial features associated with Down syndrome
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Illustration of the facial features of Down syndrome
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Third copy of chromosome 21
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Life long
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Down's syndrome, Down's, trisomy 21
dbo:abstract
다운 증후군(영어: Down Syndrome), 또는 21번 삼염색체성(Trisomy)은 유전병의 일종으로, 21번 염색체가 정상보다 많이 발현 될 경우에 나타나는 질병이다. 다운 증후군은 신체적 발달의 지연을 일으키며 안면 기형과 지적 장애를 동반한다. 다운 증후군을 가진 청소년의 평균 지능 지수는 대략적으로9살이다. 다운 증후군을 가진 부모의 염색체는 대부분 정상이지만 잉여 염색체가 확률에 의해 추가 발현하게 된다. 20세 산모에게서 0.1%의 확률을 보이지만 45세에 이르러 3%의 가능성을 보이게 된다. 후천적, 환경적으로 인한 영향에 대해서는 알려진 바가 없다. 다운 증후군은 산모가 임신 도중에 태아 산전 진단을 통하여 확인할 수 있으며 출산 후 직접적인 유전자 검사를 통해 판별받는다. 다운 증후군의 치료에 대해서는 알려진 바가 없으며 교육과 유복한 환경이 삶의 질을 향상시키는데 도움이 되는 것이 입증되었다. 몇몇 다운 증후군 어린이들은 다른 다운 증후군 어린이들과는 달리 더 높은 학습능력을 갖는 것으로 나타났으며 일부 소수는 고등학교를 졸업하고 대학에 진학한 것으로 알려져 있다. 선진화된 국가에서 의학 기술로 기대 수명을 50 ~ 60세까지 올리는 것이 가능하다. 다운 증후군은 인간의 가장 흔한 삼염색체성으로 알려져 있다. 1000명의 아기당 1명 꼴로 발현되며 2015년 한해에만 5백만명의 다운 증후군 유아가 발생했고 그로인해 27,000명이 사망했다. 병의 이름은 1866년에 이 병을 발견한 영국인 의사 의 이름을 따서 붙여졌다. 그 후 1838년 프랑스 의사 과 1844년 미국의 에두아드 세귄에 의해 추가적인 병의 측면이 발견 되었고 1957년 다운 증후군이 제3의 21번 염색체로 발병한다는 것을 발견했다. Το σύνδρομο Down (προφέρεται Ντάουν) (ή αλλιώς Τρισωμία 21 ή Τρισωμία G) περιγράφει μια χρωμοσωμική ανωμαλία, που περικλείει ένα σύνολο χαρακτηριστικών, τα οποία υπάρχουν εκ γενετής στους φορείς της γενετικής αυτής βλάβης και αφορούν παρεκκλίσεις στη σωματική διάπλαση, τη νοητική ανάπτυξη και την ψυχοκοινωνική εξέλιξή τους. Από ορισμένους δεν θεωρείται ασθένεια, δεδομένου ότι τα άτομα με σύνδρομο Down δεν υποφέρουν από αυτό. Η επίπτωση του συνδρόμου διεθνώς είναι 1:700 ως 1:800. Στην Ελλάδα κάποιες μελέτες προσδιορίζουν την αναλογία γεννήσεων παιδιών με σύνδρομο Down σε 1 στις 770 γεννήσεις.Παράγοντας που επηρεάζει κρίσιμα την αναλογία αυτή αποτελεί η ηλικία της μητέρας, καθ' ότι στην ηλικία των 20 ετών η συχνότητα κυμαίνεται περίπου στο 1:2000 για να ανέλθει μετά τα 40 σε 1:100 ή λιγότερο. Άλλοι παράγοντες που αυξάνουν την πιθανότητα γέννησης παιδιού με σύνδρομο Down αποτελούν η γέννηση προηγούμενου πάσχοντος παιδιού από τους ίδιους γονείς και η περίπτωση ένας γονέας να είναι φορέας του Μεταθετικού συνδρόμου Down (βλ. ). El síndrome de Down (SD) es un trastorno genético causado por una copia extra del cromosoma 21 (o una parte) en vez de los dos. Por ello, se denomina también trisomía del par 21. Se caracteriza por un grado variable de discapacidad intelectual y unos rasgos físicos que le dan un aspecto reconocible. Debe su nombre a John Langdon Down, que fue el primero en describir esta alteración genética en 1866, aunque nunca llegó a descubrir las causas que la producían. En julio de 1958, un joven investigador llamado Jérôme Lejeune descubrió que el síndrome es una alteración en el mencionado par de cromosomas. No se conocen con exactitud las causas que provocan el exceso cromosómico. Sin embargo, los factores de riesgo son que los padres hayan concebido un hijo con síndrome de Down, que cualquiera de los padres sea portador de la translocación genética para el síndrome de Down y la edad avanzada de la madre. Aunque haya riesgo en cualquier edad, el riesgo de concebir una persona con síndrome de Down aumenta gradualmente después de los 35 años, ya que las mujeres más jóvenes tienden a tener más hijos.​ Las personas con síndrome de Down tienen probabilidad superior a la de población de padecer algunas enfermedades especialmente de corazón, aparato digestivo y sistema endocrino debido al exceso de proteínas sintetizadas por el cromosoma de más. Los avances actuales en el descifrado del genoma humano están revelando algunos de los procesos bioquímicos subyacentes a la discapacidad intelectual, pero en la actualidad no existe ningún tratamiento farmacológico que haya demostrado que mejora las capacidades intelectuales de estas personas.​​​​​ Синдро́м Да́уна (трисомія за 21 хромосомою) — генетична аномалія, яку спричинює присутність додаткової хромосоми у 21 парі. Синдром Дауна є хромосомною аномалією (не є хворобою і не лікується), якій притаманна додаткова хромосома 21 — цілковита (трисомія 21) або часткова (внаслідок транслокації). Такі діти мають 47 хромосом у каріотипі замість звичних 46. Їм притаманна характерна зовнішність, підвищена можливість появи певного спектра захворювань, певна розумова відсталість, яка спричинює повільніший розумовий розвиток на фоні здорових особин та гіршу соціальну адаптацію. Через неможливість повного розв'язання проблем цієї аномалії медицина ставить на меті не постійне лікування, а забезпечення нормального соціального статусу для людей, що мають синдром Дауна. Синдром Дауна належить до природжених вад розвитку, деформацій та хромосомних аномалій — код Q 90. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often aborted. There is no cure for Down syndrome. Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school, and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity, with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 years in the developed world with proper health care. Regular screening for health problems common in Down syndrome is recommended throughout the person's life. Down syndrome is one of the most common chromosome abnormalities in humans. It occurs in about 1 in 1,000 babies born each year. In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000 deaths, down from 43,000 deaths in 1990. It is named after British doctor John Langdon Down, who fully described the syndrome in 1866. Some aspects of the condition were described earlier by French psychiatrist Jean-Étienne Dominique Esquirol in 1838 and French physician Édouard Séguin in 1844. The genetic cause of Down syndrome was discovered in 1959. Síndrome de Down, também denominada trissomia 21 ou T21, é uma alteração genética causada pela presença integral ou parcial de uma terceira cópia do cromossoma 21. A condição está geralmente associada a atraso no desenvolvimento infantil, feições faciais características e deficiência intelectual leve a moderada. A trissomia do cromossomo 21 é a causa genética para a síndrome de Down. Trata-se da causa genética mais comum de deficiência intelectual (formalmente definida por um quociente de inteligência (QI) inferior a 70. O QI de um jovem adulto com síndrome de Down é, em média, de 50, embora isto possa variar significativamente. Os pais da pessoa com síndrome de Down geralmente não têm alterações em termos genéticos. A presença do cromossomo adicional ocorre ao acaso por um erro na gametogênese. A probabilidade aumenta com a idade materna, desde menos de 0,1% em mulheres que são mães aos 20 anos até 3% em mulheres que sejam mães aos 45 anos. Não se conhece qualquer fator comportamental ou ambiental que influencie esta probabilidade. A Síndrome de Down pode ser detectada durante a gravidez durante o rastreio pré-natal, seguido por exames de diagnóstico após o nascimento através de observação direta e exames genéticos. Desde a introdução dos rastreios, as gravidezes com diagnóstico da síndrome são geralmente interrompidas em países onde esse tipo de interrupção é permitido. Recomenda-se à pessoa com síndrome de Down a realização regular ao longo da vida de exames de rastreio para problemas de saúde comuns na condição. O diagnóstico da síndrome de Down geralmente é clínico, a partir de características observáveis. Porém, é recomendável a realização do exame de cariótipo para verificar se trata-se de uma trissomia livre ou parcial do cromossomo 21. Em casos de trissomia parcial, que correspondem a uma minoria dos casos, um dos genitores pode ser portador de uma translocação balaceada envolvendo o cromossomo 21, o que aumenta o risco recorrência da síndrome de Down e abortamentos em gestações seguintes. Dessa forma, o resultado do cariótipo é relevante para planejamento familiar. Não existe cura para a síndrome de Down. A educação e cuidados adequados aumentam a qualidade de vida da pessoa. Algumas crianças com síndrome de Down frequentam escolas comuns, enquanto outras requerem ensino especializado. Algumas concluem o ensino secundário e podem frequentar o ensino superior. Durante a idade adulta, muitas pessoas com a condição executam trabalhos remunerados, embora seja frequente que necessitem de adequações no ambiente de trabalho, com orientações específicas. Em muitos casos, as pessoas com síndrome de Down necessitam de apoio financeiro e orientação em questões legais. Em países desenvolvidos e com cuidados apropriados, a esperança média de vida com a condição é de 50 a 60 anos ou mais. A síndrome de Down é uma das alterações cromossómicas mais comuns nos seres humanos, ocorrendo em cerca de um entre cada 1 000 bebés nascidos em cada ano. Em 2015, cerca de 5,4 milhões de pessoas em todo o mundo tinham síndrome de Down. Em 2013, a condição foi a causa de 27 000 mortes, uma diminuição em relação às 43 000 em 1990. A síndrome é assim denominada em memória de John Langdon Down, o médico britânico que descreveu integralmente essa condição em 1866. Algumas características já tinham já sido descritas por Jean-Étienne Esquirol em 1838 e em 1844. Em 1958 foi descoberta por Jérôme Lejeune a causa genética dessa alteração, uma cópia adicional do cromossoma 21. Downs syndrom är ett syndrom som beror på en kromosomavvikelse. En person med Downs syndrom har tre exemplar av kromosom nummer 21 istället för det normala två, så kallad trisomi-21 (alternativt delar av den extra kromosomen). Detta leder till en utvecklingsstörning som kan variera från mycket lindrig till grav. Tillståndet karakteriseras av en kombination av större och mindre avvikelser hos personen. Downs syndrom hänger ofta samman med vissa begränsningar av de kognitiva förmågorna och den fysiska tillväxten, samt karakteristiska ansiktsdrag. Personer med Downs syndrom har vanligtvis en kognitiv förmåga som är lägre än genomsnittet och har ofta en utvecklingsstörning som spänner från lindrig till måttlig. Ett litet antal av personerna har en grav till djup utvecklingsstörning. Incidensen att ett barn skall födas med Downs syndrom är 1 per 800–1500, även om det statistiskt sett är mycket vanligare om modern är äldre. Andra faktorer kan också spela roll. Det går att upptäcka Downs syndrom hos ett foster genom ett så kallat fostervattenprov under graviditeten. Många av de vanliga fysiska särdragen hos personer med Downs syndrom kan även uppkomma hos personer med en normal uppsättning av kromosomer. För att särskilja detta används Halls kriterier som består av 20 kännetecken. Om barnet har 12 av dessa är diagnosen klar. Några av kännetecknen inkluderar en onormalt liten haka, ett ovanligt runt ansikte, , det vill säga en utskjutande eller förstorad tunga, mandelformade ögon på grund av ett mongolveck på ögonlocket, kortare lemmar och små händer som har en enda fåra i handflatan (som sträcker sig över handflatan), små fötter, lågt sittande öron, tjockt skinn i nacken, muskelsvaghet och ett avstånd mellan stortån och den andra tån som är större än vad som är vanligt. Personer med Downs syndrom har en ökad benägenhet att få problem med hjärtat, gastroesofageal refluxsjukdom, återkommande infektioner i örat, obstruktiv sömnapné samt problem med sköldkörteln med mera. Att tidigt stödja familjerna, undersöka barnen efter vanliga problem, behandla dessa medicinskt när de upptäcks, en befrämjande familjemiljö, och deltagande i yrkesskolor kan förbättra den allmänna utvecklingen för barn med Downs syndrom. Även om vissa av de genetiska begränsningarna som följer Downs syndrom inte kan överkommas kan utbildning och en god omvårdnad förbättra livskvalitén. Downs syndrom har sitt namn efter John Langdon Down, den brittiske läkare som år 1866 blev den första att beskriva syndromet. Efter Downs död 1896 fortsatte många med hans arbete, men på grund av den begränsade tekniken dröjde det till slutet av 1950-talet innan man kom fram till orsaken till tillståndet. Upptäckten att det hela berodde på en extra kromosom 21 gjordes av år 1959. En äldre term för Downs syndrom är mongolism och då kallades en person som hade syndromet för mongoloid. Uttrycket uppfattas idag som kränkande. Uttrycket mongolism uppkom på grund av det så kallade mongolvecket. Vecket vid ögat som personer med Downs syndrom har, är också vanligt hos folk med östasiatisk bakgrund. Trisomie 21 oder Down-Syndrom ist eine Chromosomenanomalie, die sich in einer Kombination geistiger Behinderung und körperlicher Fehlbildungen in unterschiedlicher Ausprägung und Stärke zeigt. Die Ursache liegt in einer Besonderheit an den Erbanlagen des betroffenen Menschen (Genommutation, Chromosomenaberration oder Aneuploidie). Dabei ist das Chromosom 21 (Chromosomen sind Bestandteile von Zellen, auf denen Erbinformationen gespeichert sind) oder Teile davon dreifach statt doppelt vorhanden. Diese Chromosomen-Störung wird deshalb Trisomie 21 genannt (von altgriechisch τρία tría, deutsch ‚drei, dreierlei‘ und σῶμα sôma, deutsch ‚Körper‘; hier: Chromosomenkörper Nr. 21, als Träger der Erbinformationen). Verdreifachungen von Chromosomen können entstehen, wenn die Zellteilung so verläuft, dass statt eines Chromosoms zwei Chromosomen der gleichen Nummer in die Keimzelle gelangen. Die befruchtete Eizelle weist dann (da noch ein Chromosom hinzugekommen ist) insgesamt drei Chromosomen auf: Je eins von Mutter und Vater und ein zusätzliches entweder von der Mutter oder dem Vater. Mit zunehmendem Alter der Mutter (vor allem ab dem 35. Lebensjahr) steigt die Wahrscheinlichkeit einer Trisomie 21 des Kindes. Menschen mit Down-Syndrom haben in der Regel typische körperliche Merkmale und sind meist in ihren kognitiven Fähigkeiten, das heißt in ihren Denkfähigkeiten, beeinträchtigt. Die Fehlbildungen und Beeinträchtigungen können unterschiedlich stark ausgeprägt sein. Die Verdreifachung des entsprechenden Erbgutes geschieht meist durch eine Fehlsegregation, das fehlende Auseinanderweichen der Chromosomen während der Meiose (Zellkernteilung). Die verschiedenen Formen der Trisomie 21 entstehen entweder spontan oder können vererbt werden, wenn die Mutter bereits selbst das Down-Syndrom hat. Eine Translokations-Trisomie (durch Chromosomenverlagerung) kann allerdings familiär gehäuft vorkommen, sofern ein Elternteil vorbelastet ist, demnach eine balancierte Translokation eines 21. Chromosoms bei einem Elternteil ohne die Symptome eines Down-Syndroms vorliegt. Eine eindeutige pränatale (vorgeburtliche) Diagnose ist nach heutigem Forschungsstand durch eine Untersuchung der fötalen Chromosomen möglich, die durch Amniozentese (Fruchtwasserpunktion) oder Chorionzottenbiopsie (Plazentapunktion), seltener durch Nabelschnurpunktion (Cordozentese) gewonnen werden. Seit 2012 können durch Bluttests bei der Mutter Spuren fötalen Erbmaterials gefunden und untersucht werden. Die dadurch mögliche Selektion durch einen Schwangerschaftsabbruch ist ethisch umstritten. La síndrome de Down (SD) és un trastorn genètic causat per la presència d'una còpia extra del cromosoma 21, o una part d'aquest, en comptes dels dos habituals (trisomia del parell 21). Es caracteritza per la presència d'un grau variable de discapacitat intel·lectual i uns trets físics peculiars que li donen un aspecte recognoscible. És la causa més freqüent de discapacitat psíquica congènita i deu el seu nom a John Langdon Haydon Down que va ser el primer a descriure aquesta alteració genètica el 1866, encara que mai va arribar a descobrir les causes que la produïen. El juliol de 1958 un jove investigador, Jérôme Lejeune, va descobrir que la síndrome és una alteració en l'esmentat parell de cromosomes. Cadascuna de les cèl·lules de l'ésser humà posseeix en el seu nucli 23 parells de cromosomes. Cada progenitor aporta a la seva descendència la meitat de la informació genètica, en forma d'un cromosoma de cada parell. 22 d'aquests parells es denominen autosomes i l'últim correspon als cromosomes sexuals (X o Y). Tradicionalment els parells de cromosomes es descriuen i nomenen en funció de la seva grandària, del parell 1 al 22 (de major a menor), més el parell de cromosomes sexuals abans esmentat. El cromosoma 21 és el més petit, en realitat, pel que hauria d'ocupar el lloc 22, però un error en la convenció de Denver de l'any 1960, que va assignar la síndrome de Down al parell 21 ha perdurat fins als nostres dies, i aquesta nomenclatura s'ha mantingut per raons pràctiques. El cromosoma 21 conté aproximadament l'1% de la informació genètica d'un individu en una mica més de 400 gens, encara que avui dia només es coneix amb precisió la funció d'uns pocs. Sindrom Down (bahasa Inggris: Down syndrome) merupakan kelainan genetik yang terjadi pada kromosom 21 pada berkas q22 gen SLC5A3, yang dapat dikenal dengan melihat manifestasi klinis yang cukup khas. Kelainan yang berdampak pada keterbelakangan pertumbuhan fisik dan mental ini pertama kali dikenal pada tahun 1866 oleh Dr.John Langdon Down. Karena ciri-ciri yang tampak aneh seperti tinggi badan yang relatif pendek, kepala mengecil, hidung yang datar menyerupai orang Mongoloid maka sering juga dikenal dengan mongolisme. Pada tahun 1970an para ahli dari Amerika dan Eropa merevisi nama dari kelainan yang terjadi pada anak tersebut dengan merujuk penemu pertama kali sindrom ini dengan istilah sindrom Down dan hingga kini penyakit ini dikenal dengan istilah yang sama. Downův syndrom, známý také jako trizomie 21, je genetická porucha způsobená přítomností celé třetí kopie 21. chromozomu nebo jeho části. Obvykle je spojena s opožděným tělesným růstem, lehkým až středně těžkým mentálním postižením a charakteristickými rysy obličeje. Průměrný inteligenční kvocient mladého dospělého člověka s Downovým syndromem je 50, což odpovídá mentálním schopnostem osmiletého nebo devítiletého dítěte, ale tato hodnota se může značně lišit. Chromozomální sada rodiče postiženého jedince jsou obvykle geneticky normální. Pravděpodobnost výskytu se zvyšuje z méně než 0,1 % u dvacetiletých matek na 3 % u matek ve věku 45 let. Předpokládá se, že přídatný chromozom vzniká náhodně (vlivem nové mutace), není znám vliv chování rodičů nebo vliv faktorů prostředí, který by zvyšoval pravděpodobnost výskytu tohoto onemocnění. Downův syndrom lze identifikovat během těhotenství prenatálním screeningem s následným diagnostickým vyšetřením nebo po narození přímým pozorováním a . Od zavedení screeningu se většina těhotenství s Downovým syndromem na základě rozhodnutí rodičů ukončuje umělým potratem. Downův syndrom nelze vyléčit. Bylo prokázáno, že vzdělávání a správná péče zlepšují kvalitu života. Některé děti s Downovým syndromem se vzdělávají v běžných školních třídách, zatímco ostatní vyžadují specializovanější vzdělávání. Někteří jedinci s Downovým syndromem dokončí střední školu a několik z nich absolvuje terciární vzdělávání. V dospělosti vykonává ve Spojených státech amerických asi 20 % osob s Downovým syndromem výdělečnou činnost, přičemž mnoho z nich vyžaduje chráněné pracovní prostředí. Často potřebují podporu ve finančních a právních záležitostech. Průměrná délka života se v rozvinutých zemích pohybuje kolem 50 až 60 let při zajištění řádné zdravotní péče. Po celý život se doporučují pravidelné lékařské prohlídky. Downův syndrom je jednou z nejčastějších chromozomových abnormalit člověka. Vyskytuje se přibližně u 1 z 1 000 dětí narozených každý rok, v České republice asi u 0,4 z 1000 živě narozených dětí. V roce 2015 se Downův syndrom vyskytoval u 5,4 milionu osob na celém světě a měl za následek 27 000 úmrtí, což je méně než 43 000 úmrtí v roce 1990. Je pojmenován po britském lékaři Johnu Langdonu Downovi, který tento syndrom popsal v roce 1866. Některé aspekty tohoto onemocnění popsali již dříve francouzský psychiatr Jean-Étienne Dominique Esquirol v roce 1838 a francouzský lékař Édouard Séguin v roce 1844. Genetická příčina Downova syndromu byla objevena v roce 1959. ダウン症候群(ダウンしょうこうぐん、英: Down syndrome)またはダウン症は、体細胞の21番染色体が通常より1本多く存在し、計3本(トリソミー症)になることで発症する先天性疾患群である。多くは第1減数分裂時の不分離によって生じるほか、減数第二分裂に起こる。新生児に最も多い遺伝子疾患である。 症状としては、身体的発達の遅延、特徴的な顔つき、軽度の知的障害が特徴である。平均して8 - 9歳の精神年齢に対応する軽度から中度の知的障害であるが、それぞれのばらつきは大きく、現時点で治療法は存在しない。教育と早期ケアによりQOLが改善されることが見込まれる。 ダウン症は、ヒトにおいて最も一般的な遺伝子疾患であり、年間1,000出生あたり1人に現れる。 Down-en sindromea edo 21 trisomia 21. kromosoma parean hiru kromosoma agertzearen ondoriozko asaldura genetikoa da, bere ezaugarriak adimen atzerapena eta bereizgarri fisiko bereziak izanik. Jaiotzetiko gabezia psikikoen artean ohikoena da eta bere izena zor zaio, berak deskribatu baitzuen asaldura hau lehen aldiz 1866an. 1958an ikerlari gazteak aurkitu zuen asaldura honen arrazoia. Down sindromea duten pertsonek zenbait patologia izateko arrisku handiagoa dute, hala nola, bihotzeko patologiak, digestio-aparatukoak edota sistema endokrinokoak. Sindrome hau detektatzeko umean amniozentesia erabil daiteke haurdunaldian zehar. 800-1.000 jaioberrietatik batean agertu ohi da, baina amaren adinak eragina du. Gaur egun, ez dago pertsona horien gaitasun intelektuala hobetzen duen tratamendu farmakologikorik. Hala ere, familia giro eta heziketa egokiak Down sindromea duten haurren garapenean eragin positiboa dute. La trisomie 21 (ou syndrome de Down) est une anomalie chromosomique congénitale provoquée par la présence d'un chromosome surnuméraire pour la 21e paire. Ses signes cliniques sont très nets, un retard cognitif est observé, associé à des modifications morphologiques particulières. C'est l'une des anomalies génétiques les plus communes aux États-Unis en 1996, avec une prévalence de 9,2 pour 10 000 naissances vivantes. L’incidence est d'environ 1 pour 770 naissances, toutes grossesses confondues, et varie en fonction de l'âge de la mère : environ 1/1 500 à 20 ans, 1/900 à 30 ans et 1/100 à 40 ans. Cette anomalie ne doit pas être confondue avec d'autres trisomies comme le syndrome XYY ou l'anomalie XXY qui ont des manifestation cliniques très différentes. L'un des traits les plus notables du syndrome de Down est le déficit du développement cognitif, mais on constate aussi dans ce cas des malformations congénitales comme des cardiopathies. Le QI des enfants atteints de trisomie 21 est extrêmement variable. Un certain nombre de patients souffrent de complications dites « orthopédiques » imposant l'hospitalisation. Les anomalies musculo-squelettiques sont souvent source de complications. Avec les progrès de la médecine et le suivi paramédical (telle que l’orthophonie), la qualité de vie des personnes trisomiques 21 s’est considérablement améliorée, ainsi que leur espérance de vie. La trisomie 21 a également été appelée mongolisme mais ce terme, bien qu'encore utilisé familièrement, est considéré aujourd'hui comme désuet et péjoratif. Is riocht géiniteach é siondróm Down (nó trísómacht 21) agus siondróm comhbheirthe: crómasóm breise is cúis leis an riocht. Bíonn leibhéal an mhíchumais fhoghlama ghinearálta idir míchumas éadrom agus míchumas domhain. Cé go mbíonn saintréithe fisiceacha áirithe comónta ar dhaoine a bhfuil siondróm Down orthu, is daoine iontu féin iad i gcónaí. La sindrome di Down, più propriamente trisomia 21 e, in passato, mongolismo o mongoloidismo, è una condizione cromosomica causata dalla presenza di una terza copia (o una sua parte) del cromosoma 21. Viene anche abbreviata DS dall'acronimo del suo nome in inglese, Down syndrome. Si tratta della più comune anomalia cromosomica del genere umano, solitamente associata a un ritardo nella capacità cognitiva e nella crescita fisica, oltre che a un particolare insieme di caratteristiche del viso. Il QI medio degli individui con la sindrome di Down è circa 50, contro il 100 delle persone non affette. Laddove tutti i casi diagnosticati presentano un ritardo cognitivo, la disabilità è molto variabile tra gli individui affetti. La maggior parte rientra nella gamma di «poco» o «moderatamente disabili» dal punto di vista della capacità motoria. La sindrome prende il nome dal medico britannico John Langdon Down, che ne fece un'ampia descrizione nel suo Observations on An Ethnic Classification of Idiots (1866) benché vi siano al riguardo studi clinici precedenti a opera dei medici francesi J.E.D. Esquirol (1838) ed Édouard Séguin (1844). Nel 1958 ne fu identificata la causa genetica in una trisomia del cromosoma 21. La sindrome di Down può essere identificata in un bambino anche prima della nascita con lo screening prenatale. متلازمة داون أو التثالث الصبغي 21 أو التثالث الصبغي G، متلازمة صبغوية تنتج عن تغير في الكروموسومات؛ حيث توجد نسخة إضافية من زوج كروموسوم 21 أو جزء منه في الخلايا، مما يسبب تغيراً في المورّثات. تتسم الحالة بوجود تغييرات كبيرة أو صغيرة في بنية الجسم. يصاحب المتلازمة غالباً ضعف في القدرات الذهنية والنمو البدني، وبمظاهر وجهية مميزة. يمكن الكشف عن المتلازمة أثناء الحمل عن طريق بزل السلى. كما يمكن أيضاً الكشف عن هذه المتلازمة بفحص الكروموسومات الجنينية في دم الأم دون الحاجة لبزل السلي. كما تساعد الأشعة الصوتية التفصيلية على عمر 11-14 أسبوعاً وعلى عمر 18-22 أسبوعياً في تقدير احتمال إصابة الجنين بمتلازمة داون. يمكن أن تجد الكثير من الصفات المميزة لمتلازمة داون في أشخاص طبيعيين كصغر الذقن وكبر حجم اللسان واستدارة الوجه وغير ذلك. تزيد احتمالية إصابة أطفال متلازمة داون بعدة أمراض كأمراض الغدة الدرقية، وارتجاع المريء، والتهاب الأذن. يوصى بالتدخل المبكر منذ الطفولة والكشف القبلي عن أكثر الأمراض شيوعا والعلاج الطبي وتوفير جو عائلي متعاون والتدريب المهني حتى تساهم في تطوير النمو الكلي للطفل ذو متلازمة داون. وبالرغم من أن بعض المشاكل الجينية التي تحدّ من قدرات طفل متلازمة داون لن تتغير إلا أن التعليم والرعاية المناسبين قد يحسّنان من جودة الحياة. 唐氏综合症(英語:Down syndrome、Doen's syndrome)也称为21三体综合征,是由于存在额外的第三条21号染色体(正常为两条)或其一部分部而引起的一种遗传性疾病。它通常伴随身体发育迟缓、轻度至中度智力障碍和。患有唐氏综合征的年轻人的平均智商为50,相当于8-9岁儿童的心智能力,但具体情况差异很大。 受影响个体的父母通常基因正常。其发病概率在母亲为20岁时不到0.1%,但45岁时增加到3%。一般认为额外的染色体是偶然出现的,没有已知的行为活动或环境因素会改变其出现率。唐氏综合征可以在怀孕期间通过产前筛查然后进行诊断测试来识别,或者在出生后通过直接观察和基因檢測来识别。自从引入筛查以来,唐氏综合征的妊娠通常会被终止。 唐氏综合征无法治愈。教育和适当的护理已被证明可以提高生活质量。一些患有唐氏综合征的儿童在典型的学校课程中接受教育,而另一些则需要更专业的教育。一些患有唐氏综合征的人从高中毕业,还有少数接受了高等教育。在成年期,美国约有20%的患者以某种身份从事有偿工作,其中许多人需要有庇护的工作环境。通常需要在财务和法律事务方面的支持。在有适当医疗保健的发达国家,患者预期寿命约为50至60岁。患者应当定期筛查唐氏综合征中常见的健康问题。 唐氏综合征是人类最常见的染色体异常之一,每年出生的婴儿中约有千分之一发生。2015年,全球有540万人患有唐氏综合征,27,000人死亡,低于1990年的43,000人。唐氏综合征以英国医生约翰·兰登·唐的名字命名,他在1866年充分描述了这种综合征。法国精神病学家让-艾蒂安·多米尼克·埃斯基罗尔(Jean-Étienne Dominique Esquirol)在 1838 年和法国医生在 1844 年对这种情况的某些方面进行了较早的描述,其遺傳病理機轉則到1959年才闡明。 Het syndroom van Down of trisomie-21 is een aangeboren afwijking die gepaard gaat met een verstandelijke beperking, typerende uitwendige kenmerken en bepaalde medische problemen, en die veroorzaakt wordt doordat het erfelijk materiaal van chromosoom 21 in drievoud voorkomt (in plaats van in tweevoud). Het syndroom komt voor op ongeveer 4,6 van de 10.000 geboortes en in alle bevolkingsgroepen. Vergelijkbare condities zijn ook bij diersoorten als chimpansees aangetroffen. Синдро́м Да́уна (трисоми́я по хромосоме 21) — одна из форм геномной патологии, при которой чаще всего кариотип представлен 47 хромосомами вместо нормальных 46, поскольку хромосомы 21-й пары, вместо нормальных двух, представлены тремя копиями (см. также плоидность). Когнитивные и физические проявления варьируются от лёгких до тяжёлых. Синдром получил название в честь английского врача Джона Дауна, впервые описавшего его в 1866 году. Связь между происхождением врождённого синдрома и изменением количества хромосом была выявлена только в 1959 году французским генетиком Жеромом Леженом. В русском молодёжном сленге «даунами» пренебрежительно называют просто глупых людей. Слово «синдром» означает набор признаков или характерных черт. При употреблении этого термина предпочтительнее форма «синдром Дауна», а не «болезнь Дауна». Родители ребёнка с синдромом Дауна обычно генетически нормальны. Вероятность синдрома возрастает в зависимости от возраста матери: с менее чем 0,1 % в 20-летнем возрасте до 3 % в 45-летнем. Первый Международный день человека с синдромом Дауна был проведён 21 марта 2006 года по инициативе греческого генетика Стилианоса Антонаракиса из Женевского университета. День и месяц были выбраны в соответствии с номером пары и количеством хромосом. Zespół Downa (ang. Down syndrome), dawniej nazywany mongolizmem – zespół wad wrodzonych spowodowany obecnością dodatkowego materiału genetycznego chromosomu 21. Eponim pochodzi od nazwiska Johna Langdona Downa. Występowanie trisomii chromosomu 21 opisane zostało po raz pierwszy w 1959 r. przez francuskiego genetyka Jerome'a Lejeune'a Osoby z zespołem Downa mają mniejsze zdolności poznawcze niż średnia w populacji zdrowej. Wahają się one od lekkiej do umiarkowanej niepełnosprawności intelektualnej. Zaburzenia rozwojowe manifestują się głównie jako skłonność do zawężonego myślenia lub naiwność. Niewiele osób wykazuje niepełnosprawność intelektualną w stopniu głębokim. Częstość występowania zespołu Downa szacuje się na 1 przypadek na 800–1000 żywych urodzeń. Wiele objawów przedmiotowych zespołu Downa jest niecharakterystycznych i spotyka się je także u osób z prawidłowym kariotypem. Zalicza się do nich: pojedynczą bruzdę dłoniową (zamiast podwójnej bruzdy na jednej lub obu dłoniach), migdałowaty kształt oczu spowodowany fałdem nad powieką, krótsze kończyny, osłabione napięcie mięśniowe oraz wystający język. U osób z zespołem Downa istnieje zwiększone ryzyko wystąpienia: ciężkiego zapalenia płuc, wad wrodzonych serca. Ostateczny stopień rozwoju i komfort życia dziecka z zespołem Downa mogą poprawić działania zainicjowane już we wczesnym dzieciństwie, tj. prawidłowa opieka lekarska, akceptacja i zaangażowanie rodziny oraz edukacja i szkolenie zawodowe. Istnieją jednak pewne fizjologiczne i genetyczne ograniczenia, których nie można pokonać. Down-sindromo aŭ Daŭn-sindromo (aŭ trisomio 21) estas kromosoma malsano de la homo, kiun kaŭzas unu aldona kromosomo, ligata al la 21-a kromosoma paro (tiel ke estas tri kromosomoj 21). La malsanulo tiel havas ne 46, sed 47 kromosomojn. La Down-sindromo aperas en proporcio de 1:1000 inter infanoj de junaj virinoj, dum 1:40 inter infanoj de virinoj super aĝo de 40 jaroj. Oni povas diagnozi la Down-sindromon antaŭ nasko el la feta akvo, analizante la kromosomojn. Kiel jam indikas la granda influo de la aĝo de la patrino, la malsano estas ĝenerale ne heredata, sed rezultas spontane el neregulaĵo dum ĉel-divida procezo (mitozo aŭ mejozo). Male al la pliparto de tiaj neregulaĵoj, trisomio 21 ne kaŭzas tujan aŭ fruan morton de la embrio. Povas esti, ke ne ĉiu ĉelo havas la superfluan kromosomon; tiuj organoj, kiuj havas tiajn ĉelojn, estas pli sanaj. La Down-sindromuloj neniam iĝas tute sendependaj pro sia intelekta postresto, sed ili estas edukeblaj je utila laboro, efektivigebla en hejmo aŭ protektita laborejo. Oni nomis la malsanon pri John Langdon Down, kiu unue priskribis ĝin en 1866. Laŭ eksteraj simptomoj li pensis, ke ĝi estas signo de mongola raso, sed tiu estas eraro.
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dbr:Downs_Syndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:Downs_syndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:Downsyndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:Down’s_Syndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:47,XX,+21
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:47,XY,+21
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:21_trisomy_syndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:History_of_Down_syndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:Trisectomy_21
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:Trisomy-21
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
dbr:Trisomy_21_syndrome
dbo:wikiPageWikiLink
dbr:Down_syndrome
dbo:wikiPageRedirects
dbr:Down_syndrome
Subject Item
wikipedia-en:Down_syndrome
foaf:primaryTopic
dbr:Down_syndrome