Human Genetics

, Volume 94, Issue 2, pp 149–153

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome

  • P. Nagesh Rao
  • Kurt Klinepeter
  • William Stewart
  • Rosa Hayworth
  • Robin Grubs
  • Mark J. Pettenati
Original Investigation

DOI: 10.1007/BF00202860

Cite this article as:
Rao, P.N., Klinepeter, K., Stewart, W. et al. Hum Genet (1994) 94: 149. doi:10.1007/BF00202860

Abstract

We describe a male infant with severe mental retardation and autism with a duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified one copy of the zinc finger protein on the X chromosome (ZFX) and two copies of the steroid sulfatase gene (STS), further delineating the breakpoints. Based on cytogenetic and molecular comparisons of cases from the literature of sex-reversal in dup(X),Y patients and our patient, we suggest that a possible secondary sexinfluencing gene involved in the regulation of sex determination or testis morphogenesis is present at the distal Xp21.1 to p21.2 region.

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • P. Nagesh Rao
    • 1
    • 2
  • Kurt Klinepeter
    • 1
  • William Stewart
    • 1
    • 2
  • Rosa Hayworth
    • 1
    • 2
  • Robin Grubs
    • 1
    • 2
  • Mark J. Pettenati
    • 1
    • 2
  1. 1.Department of Pediatrics, Section on Medical GeneticsBowman Gray School of Medicine, Wake Forest UniversityWinston-SalemUSA
  2. 2.Section on Medical Genetics, Bowman Gray School of MedicineWake Forest UniversityWinston-SalemUSA