MONOSOMY 10QTER

被引：42

作者：

TURLEAU, C

GROUCHY, JD

PONSOT, G

BOUYGUES, D

机构：

[1] HOP ENFANTS MALAD,CNRS,EQUIPE RECH 149,F-75730 PARIS 15,FRANCE

[2] INSERM,U173,F-75730 PARIS 15,FRANCE

[3] HOP ST VINCENT PAUL,PEDIAT & PUERICULTURE CLIN,F-75674 PARIS 14,FRANCE

来源：

HUMAN GENETICS | 1979年 / 47卷 / 03期

关键词：

D O I：

10.1007/BF00321014

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. © 1979 Springer-Verlag.

引用

页码：233 / 237

页数：5

共 5 条

[1] MALFORMATIVE SYNDROME ASSOCIATED WITH A RING-10 CHROMOSOME AND A TRANSLOCATED 10Q-19 CHROMOSOME [J].