Linkage studies with the gene for an X‐linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
- 1 May 1988
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2), 493-508
- https://doi.org/10.1002/ajmg.1320300152
Abstract
A family in which a gene (MRX2) is segregating for an X‐linked syndrome of mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes and possible intra‐uterine growth retardation is described. There are 7 clearly affected males and one possibly affected infant in the family. The obligate carriers are normal. Linkage studies show a suggestion of linkage to loci near the centromere. The maximum lod score was 2.10 at =0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 ( =0.14; Ẑ=1.29) and DXS94 ( =0.11; Ẑ=1.22).Keywords
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