title: Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies.
abstract: The extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y-specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich-Turner-like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns.
authors.affiliation: MRC Human Ecogenetics Research Unit, School of Pathology, University of Witwatersrand, Johannesburg, South Africa.
authors.forename: S
authors.initials: S
authors.lastname: Shankman
authors.forename: A B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: D
authors.initials: D
authors.lastname: Morris
authors.forename: J
authors.initials: J
authors.lastname: Rosendorff
authors.forename: I
authors.initials: I
authors.lastname: Marques
authors.forename: R
authors.initials: R
authors.lastname: Bernstein
authors.forename: M
authors.initials: M
authors.lastname: Ramsay
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D018404:Isochromosomes; D007621:Karyotyping; D051741:Kruppel-Like Transcription Factors; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010641:Phenotype; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; C054430:ZFY protein, human