Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21
β Scribed by I. Bach; D. Robinson; N. Thomas; H. -H. Ropers; F. P. M. Cremers
- Book ID
- 104670011
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 510 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Linkage studies and cytogenetically visible deletions associated with nonspecific X-linked mental retardation (XLMR) and a specific form of deafness (DFN3) have indicated that the genes responsible for these disorders are located at Xq21. Using DNA probes from this region, we have studied several overlapping deletions spanning different parts of Xq21. This has enabled us to assign the DFN3 gene and a gene for nonspecific XLMR to an interval that encompasses the locus DXS232 and that is flanked by DXS26 and DXS121.
π SIMILAR VOLUMES
Two genes responsible for X-linked mental retardation have been localised by linkage analysis. MRX30 maps to a 28 cM region flanked by the loci DXS990 (Xq21.3) and DXS424 (Xq24). A significant multipoint lod score of 2.78 was detected between the loci DXSll20 and DXS456. MRX31 maps to a 12 cM region
Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. When the effort to map the gene for the above condition was initia
## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have lowβset cupped ears with sensorineural hearing loss, normal phall