TY - JOUR
T1 - Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
AU - Sutherland, G. R.
AU - Gedeon, A. K.
AU - Haan, E. A.
AU - Woodroffe, P.
AU - Mulley, J.
PY - 1988/1/1
Y1 - 1988/1/1
N2 - 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).
AB - 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).
UR - http://www.scopus.com/inward/record.url?scp=0023735853&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320300152
DO - 10.1002/ajmg.1320300152
M3 - Article
C2 - 3177467
AN - SCOPUS:0023735853
SN - 0148-7299
VL - 30
SP - 493
EP - 508
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1-2
ER -