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microdeletion syndrome : ウィキペディア英語版
microdeletion syndrome
Microdeletion syndrome is a syndrome caused by a chromosomal deletion (< 5Mb) 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
==Examples==

* DiGeorge syndrome or velocardiofacial syndrome - commonest microdeletion syndrome
* Prader–Willi syndrome
* Angelman syndrome
* Neurofibromatosis type 1
* Neurofibromatosis type II
* Williams syndrome
* Miller–Dieker syndrome
* Smith–Magenis syndrome
* Rubinstein–Taybi syndrome
* Wolf–Hirschhorn syndrome

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「microdeletion syndrome」の詳細全文を読む



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