title: Identification of Y-chromosomal DNA in a Turner syndrome mosaic by polymerase chain reaction.
abstract: A 15.5-year-old female was referred for primary amenorrhea and slow development of secondary sex characteristics. The karyotype revealed 45,X/46,X,+mar (75%/25%). The small marker chromosome was C-band and Q-band negative. It appeared to be primarily centromeric with some light G-band staining material on either side. Females with Y-chromosomal material are at an increased risk for gonadal neoplasia and this patient was studied further to investigate the possibility that the marker was a deleted Y chromosome. Polymerase chain reaction (PCR) analysis of this patient's DNA revealed the presence of Y-chromosomal material presumably derived from the marker chromosome. These results indicate that the PCR technique, in conjunction with cytogenetic analysis, can identify possible Y-chromosomal material. This testing provides critical information necessary for correct medical followup of Turner syndrome mosaic patients.
authors.affiliation: Division of Medical Genetics, Children's Hospital Oakland, CA 94609.
authors.forename: E
authors.initials: E
authors.lastname: Louie
authors.forename: M
authors.initials: M
authors.lastname: Nemeti
authors.forename: H
authors.initials: H
authors.lastname: Torfi
authors.forename: L B
authors.initials: LB
authors.lastname: Poskanzer
authors.forename: F R
authors.initials: FR
authors.lastname: Anderson
authors.forename: J P
authors.initials: JP
authors.lastname: Johnson
mesh_terms: D000293:Adolescent; D004247:DNA / Q000032:analysis*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA