10号染色体长臂末端缺失及其临床特征。

Terminal deletion of chromosome 10q and its clinical features.

作者信息

Kogasaka R, Morohoshi T, Sawada Y, Fujiwara M

机构信息

Department of Pediatrics, Sunagawa City Medical Center, Japan.

出版信息

Acta Paediatr Jpn. 1990 Feb;32(1):83-7. doi: 10.1111/j.1442-200x.1990.tb00788.x.

DOI:10.1111/j.1442-200x.1990.tb00788.x

PMID:2109493

Abstract

A male case with terminal deletion of chromosome 10q has growth retardation, craniofacial dysmorphism, congenital heart disease and other minor anomalies. The karyotypic formula is 46, XY, del (10), (q26.1----qter) by a high resolution G-banding staining. There are few differences in clinical features between our case and the previously reported cases.

摘要

一名患有10号染色体长臂末端缺失的男性病例，存在生长发育迟缓、颅面部畸形、先天性心脏病及其他轻微异常。经高分辨率G显带染色，其核型公式为46, XY, del (10), (q26.1----qter)。我们的病例与先前报道的病例在临床特征上几乎没有差异。