13号染色体长臂2区2带缺失，伴有多种先天性异常、积水性无脑畸形和阴茎阴囊转位。
Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition.
作者信息
Gershoni-Baruch R, Zekaria D
机构信息
Department of Medical Genetics, Rambam Medical Center, Haifa, Israel.
出版信息
Clin Dysmorphol. 1996 Oct;5(4):289-94.
PMID:8905192
Abstract
We report on a neonate with multiple congenital anomalies and hydranencephaly. His chromosome constitution was 46,XY, del(13)(q22). This case further delineates the phenotypic variation of deletion distal 13q- syndrome.
摘要
我们报告了一名患有多种先天性异常和积水性无脑畸形的新生儿。他的染色体组成为46,XY，del(13)(q22)。该病例进一步描述了13q远端缺失综合征的表型变异。
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