A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
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چکیده
منابع مشابه
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
In 1981 three northern European families were described in which a severely mentally retarded son also had haemoglobin H (Hb H) disease.' These findings were of interest because Hb H disease, a relatively severe manifestation of a thalassaemia, is rare in northern Europeans although it is frequently seen in Mediterranean and Oriental racial groups in which it is not known to be associated with ...
متن کاملAlpha thalassaemia-mental retardation, X linked
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients ...
متن کاملAlpha thalassaemia - mental retardation , X linked Richard
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients ...
متن کاملAlpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.
In 1990 the existence of an X linked form of the alpha thalassaemia/mental retardation syndrome was postulated after the description of six isolated cases who were all cytogenetically male. The segregation pattern in the family described here supports X linked inheritance. The clinical details of our two patients are remarkably similar to the previously delineated phenotype. In addition, renal ...
متن کاملX linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
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. H...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.11.729