一名发育迟缓儿童体内的额外染色体标记物(1)
Supernumerary chromosome marker (1) in a developmentally delayed child.
作者信息
Lanphear N, Lamb A, Oppenheimer S, Soukup S
机构信息
University Affiliated Cincinnati Center for Developmental Disorders, Children's Hospital Medical Center, OH 45229-2899, USA.
出版信息
Am J Med Genet. 1995 Jul 3;57(3):400-2. doi: 10.1002/ajmg.1320570307.
PMID:7545867
Abstract
A 15-month-old boy with mild developmental delay and several minor anomalies was found to be mosaic 46,XY/47,XY ,+mar(1). The marker r(1) was a small de novo ring identified by FISH with a painting type DNA probe.
摘要
一名15个月大、有轻度发育迟缓及多种轻微异常体征的男童被发现为46,XY/47,XY,+mar(1)嵌合体。标记染色体r(1)是通过用涂染型DNA探针进行荧光原位杂交鉴定出的一条新的小环状染色体。
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