| dbo:abstract
|
- Mikrodeletionssyndrom ist eine Gruppe von Chromosomenmutationen mit auch teilweisem Fehlen einer Nukleotidsequenz, geht also mit Verlust von genetischem Material einher. Im Gegensatz zur Chromosomendeletion, die durch Karyotypisierung erfasst werden können, handelt es sich bei Mikrodeletionen um kleinere Deletionen, die nur durch In-situ-Hybridisierung nachgewiesen werden können. Zu den „klassischen“ Mikrodeletionssyndromen zählen:
* Angelman-Syndrom (15q11.2-q13)
* Prader-Willi-Syndrom (15q11.2-q13),
* Williams-Beuren-Syndrom (7q11.23),
* Smith-Magenis-Syndrom (17p11.2)
* DiGeorge-Syndrom (22q11.2). Darüber hinaus gibt es eine Vielzahl weiterer Syndrome gemäß der Datenbank Orphanet:
* , Synonyme: Del(1)p(21.3); Monosomie 1p21.3
* , Synonyme: Del(1)(p31p32); Monosomie 1p31p32
* , Synonyme: Del(1)(q21); Monosomie 1q21.1
* , Synonyme: Del(1)(q41q42); Monosomie 1q41-q42
* ,Synonyme: Del(1)(q44); Monosomie 1q44
* , Synonym: Del(2)(p21) ohne Cystinurie
* , Synonym: Del(2)(p13.2)
*
*
* , Synonym: 2p21-Contiguous gene deletion-Syndrom
* Mikrodeletionssyndrom 2q23.1
* , Synonyme: Del(2)(q24); Monosomie 2q24
*
*
* , Synonyme: Del(2)(q33.1); Monosomie 2q33.1
* , Synonyme: Albright-Osteodystrophie, hereditäre, Typ 3; Albright-Osteodystrophie-ähnliches Syndrom; Brachydaktylie-Intelligenzminderung-Syndrom; Del(2)(q37); Deletion 2q37 Deletion 2q37-qter; Monosomie 2q37-qter
* , Synonyme: Del(3)p(25.3); Intelligenzminderung-Epilepsie-stereotype Handbewegungen-Syndrom; Monosomie 3p25.3
* , Synonyme: Del(3)(q13); Monosomie 3q13
* , Synonyme: Del(3)(q26q27); Deletion 3q26-q27; Monosomie 3q26-q27; Monosomie 3q26q27
* , Synonym: Del(3)(q27.3)
* , Synonyme: Del(3)(q29); Deletion 3qter; Monosomie 3q29; Monosomie3qter
* , Synonyme: Del(4)(q21); Monosomie 4q21
* , Synonyme: Del(5)(q14.3); Monosomie 5q14.3
*
*
* , Synonyme: Del(6)(p22); Monosomie 6p22
*
* , Synonyme: Del(6)(q16); Monosomie 6q16; Prader-Willi-ähnliches Syndrom durch Deletion 6q16
* , Synonyme: Del(6)(q25); Monosomie 6q25
* Chromosom-7q-Syndrom
* , Synonyme: Del(7)(q11.23); Monosomie 7q11.23, distal
* , Synonyme: Del(7)(q31); Monosomie 7q31
*
* , Synonyme: Del(8)(p11.2); Monosomie 8p11.2
* , Synonyme: Del(8)(p23.1); Monosomie 8p23.1
* , Synonyme: Del(8)(q21.11); Deletion 8q21.11; Monosomie 8q21.11
* Mikrodeletionssyndrom 9p13, Synonyme: Del(9)(p13); Monosomie 9p13
*
* , Synonyme: Del(9)(q31.1q31.3); Monosomie 9q31.1q31.3
* , Synonyme: Del(9)(q33.3q34.11); Deletion 9q33.3q34.11; Mikrodeletionssyndrom 9q33.3-q34.11; Monosomie 9q33.3-q34.11; Monosomie 9q33.3q34.11
*
*
*
*
*
*
*
*
*
*
* , Synonyme: Del (14)(q32.2), maternal; Monosomie 14q32.2, maternal
* , paternal, Synonym: Del (14)(q32.2), paternal
*
* , Synonyme: 15q11.2 (BP1-BP2)-Mikrodeletionssyndrom; Del(15)(q11.2); Monosomie 15q11.2
* , Synonyme: Del(15)(q13.3); Monosomie 15q13.3
* , Synonyme: Del(15)(q14); Monosomie 15q14
* , Synonyme: Del(15)(q24); Monosmie 15q24
* , Synonyme: Distal del(16)(p11.2); Monosomie 16p11.2, distal
* , Synonyme: Del(16)(p11.2); Monosomie 16p11.2
*
* , Synonyme: Del(16)(p13.11); Monosomie 16p13.11
*
* , Synonyme: Del(16)(q24.3); Monosomie 16q24.3
* , Synonym: Del(17)(p13.1), distal
* , Synonyme: Del(17)(p13.3); Monosomie 17p13.3, distal
* , Synonyme: Del(17)(q11); Monosomie 17q11; NF1-Mikrodeletionssyndrom; Neurofibromatose Typ 1-Mikrodeletionssyndrom
* Mikrodeletionssyndrom 17q11.2, Synonyme: Dup(17)(q11.2); Grisart-Destrée-Syndrom; Trisomie 17q11.2
* , Synonyme: Del(17)(q12); Monosomie 17q12
* , Synonyme: Del(17)(q21.31); Monosomie 17q21.31
* , Synonyme: Del(17)(q23.1q23.2); Monosomie 17q23.1-q23.2
* , Synonyme: Del(19)(p13.12); Monosomie 19p13.12
* , Synonyme: Del(19)(p13.13); Monosomie 19p13.13
* , Synonyme: Del(19)(q13.11); Monosomie 19q13.1
* , Synonyme: Del(20)(p12.3); Monosomie 20p12.3
* Mikrodeletionssyndrom 20p13, Synonyme: Del(20)(p13); Monosomie 20p13; Subtelomere 20p-Deletion
* , Synonyme: Del(20)(q11.2); Monosomie 20q11
*
* , Synonyme: Del(20)(q13.33); Monosomie 20q13; Monosomie 20q13.33
* Mikrodeletionssyndrom 21q22, Synonyme: Del(21)(q22.11q22.12); Mikrodeletionssyndrom 21q22.11-q22.12; Monosomie 21q22.11-q22.12
*
*
*
*
* , Synonym: Mikrodeletionssyndrom 17p11.2,
*
* Nablus-mask-like-facial-Syndrom, Synonym: Mikrodeletionssyndrom 8q22.1 (de)
- En genética se denomina microdeleción a la pérdida de un fragmento de material cromosómico, generalmente de entre 1 y 3 millones de bases de ADN. Existen diversos síndromes por microdeleción que también se llaman síndromes por pérdida de genes contiguos, la mayor parte causan manifestaciones desde la infancia y provocan entre otros síntomas retraso en el desarrollo mental. (es)
- A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb). Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques. (en)
- Microdeleção, em genética, refere-se à perda de uma pequena parte do DNA de um cromossomo, não detectável na cariotipagem usual. Para a sua detecção são necessárias outras técnicas, tais como cariótipo com bandas em alta resolução, como PCR ou FISH. Exemplos de doenças onde ocorrem microdeleções são a síndrome de Angelman, síndrome de DiGeorge e síndrome de Prader-Willi. Microdeleções do cromossomo Y podem estar associadas à infertilidade. (pt)
|
