Human Genetics

, Volume 100, Issue 2, pp 236–239 | Cite as

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

  • E. Rao
  • B. Weiss
  • M. Fukami
  • A. Mertz
  • J. Meder
  • T. Ogata
  • U. Heinrich
  • J. Garcia-Heras
  • K. Schiebel
  • G. A. Rappold
Original investigation

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.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • E. Rao
    • 1
  • B. Weiss
    • 1
  • M. Fukami
    • 1
  • A. Mertz
    • 1
  • J. Meder
    • 1
  • T. Ogata
    • 2
  • U. Heinrich
    • 3
  • J. Garcia-Heras
    • 4
  • K. Schiebel
    • 1
  • G. A. Rappold
    • 1
  1. 1.Institut für Humangenetik, Universität 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.deDE
  2. 2.Department of Paediatrics, Keio University, Tokyo 160, JapanJP
  3. 3.Pädiatrische Endokrinologie, Universitäts-Kinderklinik, D-69120 Heidelberg, GermanyDE
  4. 4.Genetic Screening and Counseling Service, Texas Department of Health, Denton, TX 76202, USAUS

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