14号染色体臂间倒位合并会阴型尿道下裂1例。
A case of perineal hypospadias with paracentric inversion of chromosome 14.
作者信息
Leung A K, Hoo J J
出版信息
Eur J Pediatr. 1986 Feb;144(5):503-4. doi: 10.1007/BF00441748.
PMID:3956540
Abstract
Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14.
摘要
14号染色体异常在临床细胞遗传学中并不常见，关于臂内倒位的研究仅有少数发表。本文报告了首例与14号染色体臂内倒位相关的尿道下裂病例。
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