The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
نویسندگان
چکیده
منابع مشابه
The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
It has previously been suggested that the non-deletion form of the alpha thalassaemia/mental retardation syndrome may be an X linked disorder. We describe four brothers with this syndrome in whom the diagnosis was first suspected because of their characteristic clinical features, although these varied somewhat from one sib to another. The diagnosis was confirmed in each case by showing Hb H inc...
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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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 ...
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Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclus...
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We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The elliptocytosis was not associated with any detectable abnormalities in red cell membrane proteins; ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.11.742