X-LINKED MENTAL-RETARDATION WITH NONDELETIONAL ALPHA-THALASSEMIA (ATR-X) - FURTHER DELINEATION OF THE PHENOTYPE

被引：7

作者：

OGLE, R ^{[1
]}

DESOUZA, M ^{[1
]}

CUNNINGHAM, C ^{[1
]}

KERR, B ^{[1
]}

SILLENCE, D ^{[1
]}

机构：

[1] ILLAWARRA DEV DISABIL SERV,FAIRY MEADOW,NSW 2519,AUSTRALIA

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 03期

关键词：

D O I：

10.1136/jmg.31.3.245

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X.

引用

页码：245 / 247

页数：3

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