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22q11.2 duplication syndrome : ウィキペディア英語版 | 22q11.2 duplication syndrome
22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22. ==Clinical features==
The most frequent reported symptoms in patients with duplication of 22q11.2 duplication syndrome are mental retardation/learning disabilility (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43% of patients). However, these are common and relatively non-specific indications for cytogenetic analysis, and the extent to which the duplication of 22q11.2 causes these features is currently unknown. The duplication is frequently inherited from a normal parent, so it is clear that intellectual development can be normal.
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「22q11.2 duplication syndrome」の詳細全文を読む
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