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摘要
4p-症候羣爲第4染色體短臂部分脫失引起先天異常之症候羣。本病例爲2歲女孩，有智能不足，精神運動遲緩，痙變，特殊面貌如：小頭，眉間部突出，高鼻樑，兩眼分離過遠，眼瞼下垂，斜視，魚形嘴，小頜，耳形大而單純，皮膚紋理異常，其染色體核型爲46，XX，4p-。
關鍵字
無資料並列摘要
Clinical and cytogenetic findings of a 2-year-old girl with partial deletion of the short arm of chromosome No.4 (4p-syndrome) are described. The major abnormalities were as follows: severe mental and psychomotor retardation, seizure, microcephaly, prominent glabella, beaky nose, hypertelorism, antimongoloid slant, strabismus, carplike mouth, micrognathia and abnormal dermatoglyphics. The karyo-types of her parents and the elder brother were normal. The 4p- syndrome can be differentiated from the 5p- (cri-du-chat) syndrome by the absence of cat-like cry.
延伸閱讀
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