نتایج جستجو برای: linked mental retardation
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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...
ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two twins with this 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...
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between...
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