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A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26
- Source :
-
European Journal of Medical Genetics . May2007, Vol. 50 Issue 3, p216-223. 8p. - Publication Year :
- 2007
-
Abstract
- Abstract: X-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes. In two of the males, late-onset testicular ascent was noted. In addition, all affected males had short stature (<0.4th centile) and mild learning difficulties and three out of the four had microcephaly. Karyotypes were normal and endocrine investigations confirmed primary testicular failure. The phenotype segregated as an X-linked trait. Haplotype and genetic two-point linkage analysis with 22 microsatellites excluded the whole X chromosome except for a region on Xq25–Xq27 encompassing 13.7Mb with a maximum LOD score of 1.1 for marker DXS8038 at θ =0.05. One family previously described as having XLMR with hypogonadism and short stature maps to the same X chromosome region implicated in our family. However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 17697212
- Volume :
- 50
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- European Journal of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 25190883
- Full Text :
- https://doi.org/10.1016/j.ejmg.2007.01.003