Inherited partial X chromosome duplication in a mentally retarded male.
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چکیده
منابع مشابه
Inherited partial X chromosome duplication in a mentally retarded male.
A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons ...
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Mosaicism for a chromosome of group G (21-22) has been described in many patients with typical Down's syndrome (Clarke, Edwards, and Smallpeice, 1961; Blank, Gemmell, Casey, and Lord, 1962; Smith, Therman, Patau, and Inhorn, 1962; Nichols, Coriell, Fabrizio, Bishop, and Bogg, 1962; Weinstein and Warkany, 1963; Lindsten, Alvin, Gustavson, and Fraccaro, 1962; Hayashi, Hsu, and Chao, 1962) and in ...
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et al., 1961; Lubs, Koenig, and Brandt, 1961) has recently been identified with the late-replicating, distally labelled, D1 (13) pair (Yunis, Hook, and Mayer, 1964b; Yunis et al., 1964a; Yunis and Hook, 1966; Gianne]li, 1965; Giannelli and Howlett, 1966; Lee et al., 1966; Wilson et al., 1967; Bloom and Gerald, 1968). This report concerns a retarded adult with some manifestations of the D1 syndr...
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A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q13.2-q21.2). The karyotyping interpretation was further confirmed by fluorescence in situ hybridization studies in which a double gene dosage of the X-inactivation-specific transcript (gene locus on Xq13.2) and a whole c...
متن کاملChromosome: A Possible Partial Duplication
One morphological variant of chromosome 1 in man differs from the more usual form of this chromosome in being longer and more submetacentric. This is due to increased length of the long arm and because there is apposition of chromatids in the paracentromeric region of the long arm (q). This variant, or similar appearing variants ofchromosome 1, have been found in 1 per 100 to 1 per 1000 newborn...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.3.222