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FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes |
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| Authors: | E. Rao B. Weiss M. Fukami A. Mertz J. Meder T. Ogata U. Heinrich J. Garcia-Heras K. Schiebel G. A. Rappold |
| Affiliation: | Institut für Humangenetik, Universit?t Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany Tel.: +49-6221-565059; Fax: +49-6221-565332; e-mail: gudrun_rappold@krzmail.krz.uni-heidelberg.de, DE Department of Paediatrics, Keio University, Tokyo 160, Japan, JP P?diatrische Endokrinologie, Universit?ts-Kinderklinik, D-69120 Heidelberg, Germany, DE Genetic Screening and Counseling Service, Texas Department of Health, Denton, TX 76202, USA, US |
| Abstract: | Deletions of the pseudoautosomal region (PAR1) of the sex chromosomes have recently been discovered in individuals with short stature, and a minimal common deletion region of 700 kb within PAR1 has subsequently been defined. We have cloned this entire region, which is bounded by the Xp/Yp telomere, as an overlapping cosmid contig. In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with short stature. Genotype-phenotype correlations have narrowed down the the critical “short stature interval” to a 270-kb region containing the gene with an important role in growth. A minimal tiling path of 6–8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic short stature. Received: 4 November 1996 / Accepted: 10 March 1997 |
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