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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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