10号染色体长臂末端单体性

Monosomy 10qter.

作者信息

Turleau C, de Grouchy J, Ponsot G, Bouygues D

出版信息

Hum Genet. 1979 Apr 5;47(3):233-7. doi: 10.1007/BF00321014.

Abstract

An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.

摘要

本文描述了一名患有10q26qter缺失的11岁女孩，并将其与文献中报道的另一名患者进行了比较。10qter单体的最典型特征似乎是：严重智力迟钝；生长发育迟缓；小头畸形；以及面部畸形，表现为长而呈三角形的脸、宽阔突出的鼻梁、发育不良的鼻尖、短人中以及下颌角变平。其中一些特征在类型和亚型上与10qter三体的特征相反。