一名婴儿中16号染色体三体的家族性传递。
Familial transmission of 16p trisomy in an infant.
作者信息
Jalal S M, Day D W, Garcia M, Benjamin T, Rogers J
机构信息
Texas Genetic Screening, Denton 76202-2467.
出版信息
Hum Genet. 1989 Jan;81(2):196-8. doi: 10.1007/BF00293904.
PMID:2912890
Abstract
Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities.
摘要
基于包括本病例在内的4例报告病例，16号染色体三体婴儿具有明显相似的特征。这些特征包括严重发育迟缓、精神运动发育迟缓、典型面容以及肢体异常。
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