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Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.

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  • Potocki–Lupski syndrome
  • Syndrome de Potocki-Lupski
  • Sindrome di Potocki-Lupski
  • Zespół Potocki-Lupskiego
rdfs:comment
  • Le syndrome de Potocki–Lupski, également connu comme le syndrome dup(17)p11.2p11.2, trisomie 17p11.2 ou syndrome de duplication 17p11.2, est un syndrome de gènes contigus impliquant la duplication de la bande 11.2 sur le bras court du chromosome 17 (17p11.2). Cette duplication a été décrite pour la première fois dans une étude de cas en 1996. En l'an 2000, la première étude de la maladie a été publiée, et en 2007, suffisamment de patients ont pu être réunis pour produire une étude complète et lui donner une description clinique détaillée. L'affection est nommée d'après deux chercheurs impliqués dans les dernières phases, les docteurs et (en) du Baylor College of Medicine.
  • Zespół Potocki-Lupskiego, zespół Potockiej-Lupskiego (ang. Potocki-Lupski syndrome, PTLS) – genetycznie uwarunkowany, rzadki zespół wad wrodzonych. Opisany po raz pierwszy w latach 90., jest pierwszym zespołem spowodowanym przez chromosomowe mikroduplikacje. Zespół Potocki-Lupskiego należy do zespołów genów przyległych.
  • Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.
  • La sindrome di Potocki-Lupski (indicata anche con PTLS o Trisomia 17p11.2) è una malattia genetica rara causata da un’anomalia del cromosoma 17. Questo tipo di duplicazione è stato descritto per la prima volta nel 1996, nel 2000 è stato rilasciato il primo studio della malattia e nel 2007, avendo a disposizione un numero sufficiente di pazienti affetti da tale malattia, è stato messo a punto uno studio completo per fornire una descrizione clinica dettagliata. Il termine PTLS è stato utilizzato da due ricercatori coinvolti nelle ultime fasi della ricerca, il dottor Lorraine Potocki e il dottor James R. Lupski del Baylor College of Medicine dai quali ha preso il nome la sindrome descritta.
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  • Potocki–Lupski syndrome
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  • Potocki–Lupski syndrome
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  • Le syndrome de Potocki–Lupski, également connu comme le syndrome dup(17)p11.2p11.2, trisomie 17p11.2 ou syndrome de duplication 17p11.2, est un syndrome de gènes contigus impliquant la duplication de la bande 11.2 sur le bras court du chromosome 17 (17p11.2). Cette duplication a été décrite pour la première fois dans une étude de cas en 1996. En l'an 2000, la première étude de la maladie a été publiée, et en 2007, suffisamment de patients ont pu être réunis pour produire une étude complète et lui donner une description clinique détaillée. L'affection est nommée d'après deux chercheurs impliqués dans les dernières phases, les docteurs et (en) du Baylor College of Medicine.
  • La sindrome di Potocki-Lupski (indicata anche con PTLS o Trisomia 17p11.2) è una malattia genetica rara causata da un’anomalia del cromosoma 17. Questo tipo di duplicazione è stato descritto per la prima volta nel 1996, nel 2000 è stato rilasciato il primo studio della malattia e nel 2007, avendo a disposizione un numero sufficiente di pazienti affetti da tale malattia, è stato messo a punto uno studio completo per fornire una descrizione clinica dettagliata. Il termine PTLS è stato utilizzato da due ricercatori coinvolti nelle ultime fasi della ricerca, il dottor Lorraine Potocki e il dottor James R. Lupski del Baylor College of Medicine dai quali ha preso il nome la sindrome descritta. La sindrome di Potocki-Lupski causa un disturbo dello sviluppo ed è caratterizzata da ipotonia, ritardo mentale, crescita ossea inferiore alla norma, ritardo nello sviluppo del linguaggio e disturbi del linguaggio, disturbi pervasivi dello sviluppo, disturbi nell'alimentazione, in molti casi comportamenti associati a disturbi dello spettro dell'autismo e altre anomalie congenite.
  • Zespół Potocki-Lupskiego, zespół Potockiej-Lupskiego (ang. Potocki-Lupski syndrome, PTLS) – genetycznie uwarunkowany, rzadki zespół wad wrodzonych. Opisany po raz pierwszy w latach 90., jest pierwszym zespołem spowodowanym przez chromosomowe mikroduplikacje. Zespół Potocki-Lupskiego należy do zespołów genów przyległych.
  • Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine. PTLS was the first predicted reciprocal of a homologous recombination (microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome. Its reciprocal disease is Smith–Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether. Potocki–Lupski syndrome is considered a rare disease, predicted to appear in at least 1 in 20,000 humans. Symptoms of the syndrome include intellectual disability, autism, and other disorders unrelated to the listed symptoms.
ICD
  • Q92.3
OMIM
Orphanet
ICD10
  • Q92.3
OMIM id
ORPHA
  • 1713
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