ALPHA-THALASSEMIA MENTAL-RETARDATION (ATR-X) - AN ATYPICAL FAMILY

被引：5

作者：

LOGIE, LJ

GIBBONS, RJ

HIGGS, DR

BROWN, JK

PORTEOUS, MEM

机构：

[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MRC,MOLEC HAEMATOL UNIT,OXFORD OX3 9DU,ENGLAND

[2] ROYAL HOSP SICK CHILDREN,EDINBURGH,MIDLOTHIAN,SCOTLAND

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1994年 / 70卷 / 05期

关键词：

D O I：

10.1136/adc.70.5.439

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A novel form of severe, X Linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations.

引用

页码：439 / 440

页数：2