Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
نویسندگان
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 کاملThe First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
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...
متن کاملX linked mental retardation: a family with a separate syndrome?
Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. The facial appearance was distinctive but different from that seen in the FG syndrome. The cases a...
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ژورنال
عنوان ژورنال: Epigenetics & Chromatin
سال: 2017
ISSN: 1756-8935
DOI: 10.1186/s13072-017-0118-4