title: A combined cytogenetic and molecular approach for diagnosing delayed puberty.
abstract: A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty.
authors.affiliation: Laboratory of Cytogenetics, FISH and Genotoxicology, Brown University School of Medicine, Providence, Rhode Island 02903, USA.
authors.forename: H F
authors.initials: HF
authors.lastname: Mark
authors.forename: J K
authors.initials: JK
authors.lastname: Bayleran
authors.forename: D B
authors.initials: DB
authors.lastname: Seifer
authors.forename: C H
authors.initials: CH
authors.lastname: Meyers-Seifer
mesh_terms: D000293:Adolescent; D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D011628:Puberty, Delayed / Q000175:diagnosis* / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
chemical_list: D004247:DNA