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X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization

Journal Article · · American Journal of Medical Genetics
 [1];  [2];  [2]
  1. Prince of Wales Children`s Hospital, Randwick (Australia)
  2. Adelaide Children`s Hospital (Australia)
A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 ({theta} = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985. 9 refs., 3 figs., 1 tab.
Sponsoring Organization:
USDOE
OSTI ID:
62058
Journal Information:
American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 51; ISSN 0148-7299; ISSN AJMGDA
Country of Publication:
United States
Language:
English

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