猫眼综合征中inv dup(22)的母系起源及临床变异
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
作者信息
Tupler R, Hoeller A, Pezzolo A, Maraschio P
机构信息
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
出版信息
Ann Genet. 1994;37(3):153-5.
PMID:7847799
Abstract
Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.
摘要
对一名有畸形和肾脏异常的男童进行的细胞遗传学分析显示有一条额外的双随体染色体。原位杂交和细胞遗传多态性分析表明，这条异常染色体源自一条单一的母源22号染色体。
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Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.猫眼综合征中inv dup(22)的母系起源及临床变异
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引用本文的文献
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