Literature DB >> 10573017

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

W Ahmad1, M De Fusco, M Faiyaz ul Haque, P Aridon, T Sarno, M Sohail, S ul Haque, M Ahmad, A Ballabio, B Franco, G Casari.   

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.

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Year:  1999        PMID: 10573017     DOI: 10.1038/sj.ejhg.5200376

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  1 in total

1.  A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization.

Authors:  Pornpoj Pramyothin; Manop Pithukpakorn; Richard F Arakaki
Journal:  Endocrine       Date:  2010-04-09       Impact factor: 3.633

  1 in total

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