title: Detection of Y-chromosome sequences in patients with X-chromosome abnormalities.
abstract: The polymerase chain reaction was used to test 18 adults and eight fetuses with numerical or structural X-chromosome abnormalities for the presence of nine Y-specific loci. Y-chromosomal DNA was detectable in one adult patient with X-chromosome mosaicism. This study and previous reports provide evidence to support further screening of patients with X-chromosome abnormalities for the presence of Y-chromosomal DNA sequences. Long-term follow-up of patients with Y-chromosomal sequences is required to determine the risk of gonadal neoplasms and other abnormal phenotypes.
authors.affiliation: Department of Obstetrics & Gynecology, National Cheng-Kung University Medical Center, Tainan, Taiwan.
authors.forename: P L
authors.initials: PL
authors.lastname: Kuo
authors.forename: R C
authors.initials: RC
authors.lastname: Wu
authors.forename: S J
authors.initials: SJ
authors.lastname: Lin
authors.forename: C C
authors.initials: CC
authors.lastname: Tzeng
authors.forename: H S
authors.initials: HS
authors.lastname: Liu
authors.forename: K E
authors.initials: KE
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D012091:Repetitive Sequences, Nucleic Acid; D012680:Sensitivity and Specificity; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000737:chemistry*