X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION - SPECTRUM OF CLINICAL-FEATURES IN 3 RELATED MALES

被引：33

作者：

WILKIE, AOM ^{[1
]}

GIBBONS, RJ ^{[1
]}

HIGGS, DR ^{[1
]}

PEMBREY, ME ^{[1
]}

机构：

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

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 11期

关键词：

D O I：

10.1136/jmg.28.11.738

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe three males (two brothers and a cousin) who have the X linked alpha-thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.

引用

页码：738 / 741

页数：4

共 6 条

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[2] OCCURRENCE OF THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (NONDELETIONAL TYPE) IN AN AUSTRALIAN MALE [J].

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[4] UNKNOWN SYNDROME - A POSSIBLE NEW X-LINKED RETARDATION SYNDROME - DYSMORPHIC FACIES, MICROCEPHALY, HYPOTONIA, AND SMALL GENITALIA [J].

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JOURNAL OF MEDICAL GENETICS, 1990, 27 (05) :339-340

[5] THE NONDELETION TYPE OF ALPHA-THALASSEMIA MENTAL-RETARDATION - A RECOGNIZABLE DYSMORPHIC SYNDROME WITH X-LINKED INHERITANCE [J].

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PEMBREY, ME ;

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[6]

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