title: Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
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 theta = 0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (theta = 0.14; z = 1.29) and DXS94 (theta = 0.11; z = 1.22).
authors.affiliation: Cytogenetics Unit, Adelaide Children's Hospital, Australia.
authors.forename: G R
authors.initials: GR
authors.lastname: Sutherland
authors.forename: A K
authors.initials: AK
authors.lastname: Gedeon
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: P
authors.initials: P
authors.lastname: Woodroffe
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002547:Cerebral Palsy / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome