双手/双足裂综合征中生殖系嵌合现象的进一步证据。两名患病的同父异母姐妹及正常父亲。
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
作者信息
De Smet L, Devriendt K, Fryns J P
机构信息
Department of Orthopedic Surgery, University of Leuven, Belgium.
出版信息
Genet Couns. 2001;12(3):251-4.
PMID:11693788
Abstract
In this report we present two halfsisters with typical cleft hand/cleft foot syndrome. Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant condition, with variable expression and penetrance.
摘要
在本报告中，我们呈现了两名患有典型裂手/裂足综合征的同父异母姐妹。她们的父亲正常，家族史呈阴性。这一观察结果为这种常染色体显性疾病中的生殖细胞镶嵌现象提供了进一步证据，该疾病具有可变的表达和外显率。
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