6号染色体短臂23区末端缺失：一例报告
Terminal deletion 6p23: a case report.
作者信息
Kormann-Bortolotto M H, Farah L M, Soares D, Corbani M, Müller R, Adell A C
机构信息
Departamento de Morfologia, Escola Paulista de Medicina, São Paulo, Brasil.
出版信息
Am J Med Genet. 1990 Dec;37(4):475-7. doi: 10.1002/ajmg.1320370410.
PMID:2260591
Abstract
We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.
摘要
我们报告了一名患有唇腭裂、睑裂反蒙古样倾斜、脐疝、骨骼异常、部分并指畸形、伴有深腱反射增强的张力亢进、精神运动和生长发育迟缓以及其他先天性异常的女孩。细胞遗传学研究显示其染色体组成为46,XX,del(6)(qter----p23:)。
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