Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
- Univ. of Reggio Calabria, Catanzaro (Italy)
- Univ. of Pavia (Italy)
- Univ. of Naples (Italy)
- Univ. of Texas, San Antonio (USA)
- Univ. of Nijmegen (Netherlands)
- Univ. of Cambridge (England)
- G. Gaslini Institute, Genoa (Italy)
Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.
- OSTI ID:
- 7137825
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:24; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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