9号染色体短臂三体综合征一例中可能存在的染色体内重复。
Possible intrachromosomal duplication in a case of trisomy 9p.
作者信息
Chiyo H, Furuyama J, Suehara N, Obashi Y, Kikkawa H
出版信息
Hum Genet. 1976 Oct 28;34(2):217-21. doi: 10.1007/BF00278892.
PMID:1002145
Abstract
A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.
摘要
一名患有多种轻微异常和智力障碍的5岁男孩被发现患有46,XY,inv dup(9p)（从短臂末端到p13::p21到p24::p13到长臂末端）的染色体疾病。先证者的临床特征与已被确认为一种临床实体的9p三体综合征的特征非常吻合。
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