%0 Journal Article %1 Sutherland1988 %A Sutherland, G. R. %A Gedeon, A. K. %A Haan, E. A. %A Woodroffe, P. %A Mulley, J. C. %D 1988 %J Am J Med Genet %K Adolescent; Adult; Aged; Cerebral Palsy; Child; Chromosome Mapping; Female; Humans; Infant; Linkage (Genetics); Male; Mental Retardation; Microcephaly; Pedigree; Syndrome; X %N 1-2 %P 493--508 %T Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) %V 30 %X 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).

@article{Sutherland1988, 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).}, added-at = {2014-07-19T21:37:03.000+0200}, author = {Sutherland, G. R. and Gedeon, A. K. and Haan, E. A. and Woodroffe, P. and Mulley, J. C.}, biburl = {https://www.bibsonomy.org/bibtex/236f93984e6266fa9deae7bf4938ce6a6/ar0berts}, groups = {public}, interhash = {38b9378bbfff41e4378f0df6cb15329a}, intrahash = {36f93984e6266fa9deae7bf4938ce6a6}, journal = {Am J Med Genet}, keywords = {Adolescent; Adult; Aged; Cerebral Palsy; Child; Chromosome Mapping; Female; Humans; Infant; Linkage (Genetics); Male; Mental Retardation; Microcephaly; Pedigree; Syndrome; X}, number = {1-2}, pages = {493--508}, pmid = {3177467}, timestamp = {2014-07-19T21:37:03.000+0200}, title = {Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)}, username = {ar0berts}, volume = 30, year = 1988 }