X‐linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization
- 15 July 1994
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 51 (4) , 575-580
- https://doi.org/10.1002/ajmg.1320510456
Abstract
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 (θ = 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 (Am J Med Genet 21:697–705).Keywords
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