Abstract
A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene.
| Original language | English |
|---|---|
| Pages (from-to) | 828-832 |
| Number of pages | 5 |
| Journal | European Journal of Human Genetics |
| Volume | 7 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - Oct 1999 |
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Keywords
- Linkage mapping
- Obesity
- X-linked mental retardation
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. / Ahmad, Wasim; De Fusco, Maurizio; Ul Haque, Muhammad Faiyaz; Aridon, Paolo; Sarno, Tiziana; Sohail, Muhammad; Ul Haque, Sayed Ul; Ahmad, Mahmud; Ballabio, Andrea; Franco, Brunella; Casari, Giorgio.
In: European Journal of Human Genetics, Vol. 7, No. 7, 10.1999, p. 828-832.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity
AU - Ahmad, Wasim
AU - De Fusco, Maurizio
AU - Ul Haque, Muhammad Faiyaz
AU - Aridon, Paolo
AU - Sarno, Tiziana
AU - Sohail, Muhammad
AU - Ul Haque, Sayed Ul
AU - Ahmad, Mahmud
AU - Ballabio, Andrea
AU - Franco, Brunella
AU - Casari, Giorgio
PY - 1999/10
Y1 - 1999/10
N2 - A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene.
AB - A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene.
KW - Linkage mapping
KW - Obesity
KW - X-linked mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0032727076&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032727076&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5200376
DO - 10.1038/sj.ejhg.5200376
M3 - Article
VL - 7
SP - 828
EP - 832
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 7
ER -