DELETION SHORT ARM-18 AND SILVER-RUSSELL SYNDROME

被引：23

作者：

CHRISTENSEN, MF ^{[1
]}

NIELSEN, J ^{[1
]}

机构：

[1] CENTR HOSP,DEPT PAEDIAT,HERNING,DENMARK

来源：

ACTA PAEDIATRICA SCANDINAVICA | 1978年 / 67卷 / 01期

关键词：

autosomal chromosome abnormality; Deletion short arm 18; hemihypertrophy; Silver‐Russell syndrome;

D O I：

10.1111/j.1651-2227.1978.tb16284.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

ABSTRACT. 4‐year‐old boy presented with physical signs of the Silver‐Russell syndrome. He further had low‐set, large protruding ears, ptosis, broad nasal base, thick protruding lips, pronounced caries, malalignment of teeth, micrognathia and mental retardation. Chromosome examination showed deletion of the short arms of chromosome No. 18. It is concluded that considering the previous findings of chromosome No. 18 aberrations in some patients with Silver‐Russell syndrome such patients should always have chromosome examination made. Copyright © 1978, Wiley Blackwell. All rights reserved

引用

页码：101 / 103

页数：3