Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome
نویسندگان
چکیده
منابع مشابه
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
BACKGROUND AND PURPOSE X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and pec...
متن کاملX-linked mental retardation.
A survey of the mentally retarded children with an IQ between 30 and 55 born in a 10-year period (1955-64) and now of school age was carried out in New South Wales. The number of propositi who had a similarly affected sib of the same sex was ascertained; 58 boys had a similarly affected brother(s) and 22 girls had a similarly affected sister(s). It is suggested that the excess of affected broth...
متن کاملMutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, ...
متن کاملLujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent for...
متن کاملX-linked mental retardation without physical abnormality: Renpenning's syndrome.
A number of families have been reported in which mental retardation appeared to be segregating as an X-linked recessive (Martin and Bell, 1943; Allan, Herndon, and Dudley, 1944; Losowsky, 1961; Renpenning et al, 1962; Dunn et al, 1962/1963; Neuhauser et al, 1969; Snyder and Robinson, 1969; Neuhauser and Zerbin-Rudin, 1970). We reported 5 such families (Turner, Turner, and Collins, 1971b) in whi...
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ژورنال
عنوان ژورنال: American Journal of Neuroradiology
سال: 2013
ISSN: 0195-6108,1936-959X
DOI: 10.3174/ajnr.a3560