Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome |
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| Authors: | P. Nagesh Rao Kurt Klinepeter William Stewart Rosa Hayworth Robin Grubs Mark J. Pettenati |
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| Affiliation: | (1) Department of Pediatrics, Section on Medical Genetics, Bowman Gray School of Medicine, Wake Forest University, 27157 Winston-Salem, NC, USA;(2) Section on Medical Genetics, Bowman Gray School of Medicine, Wake Forest University, 27157 Winston-Salem, NC, USA |
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| 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. |
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