Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

G. R. Sutherland, A. K. Gedeon, E. A. Haan, P. Woodroffe, J. Mulley

Research output: Contribution to journalArticle

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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 θ=0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (θ=0.14; z=1.29) and DXS94 (θ=0.11; z=1.22).

Original languageEnglish
Pages (from-to)493-508
Number of pages16
JournalAmerican Journal of Medical Genetics
Volume30
Issue number1-2
DOIs
Publication statusPublished - 1 Jan 1988
Externally publishedYes

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X-Linked Mental Retardation
Lod Score
Microcephaly
Cerebral Palsy
Craniosynostoses
Centromere
Genes
Testis
Growth

Cite this

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Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2). / Sutherland, G. R.; Gedeon, A. K.; Haan, E. A.; Woodroffe, P.; Mulley, J.

In: American Journal of Medical Genetics, Vol. 30, No. 1-2, 01.01.1988, p. 493-508.

Research output: Contribution to journalArticle

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