title: Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.
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 sex-influencing gene involved in the regulation of sex determination or testis morphogenesis is present at the distal Xp21.1 to p21.2 region.
authors.affiliation: Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, NC 27157.
authors.forename: P N
authors.initials: PN
authors.lastname: Rao
authors.forename: K
authors.initials: K
authors.lastname: Klinepeter
authors.forename: W
authors.initials: W
authors.lastname: Stewart
authors.forename: R
authors.initials: R
authors.lastname: Hayworth
authors.forename: R
authors.initials: R
authors.lastname: Grubs
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
mesh_terms: D001321:Autistic Disorder / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome