A combined cytogenetic and molecular approach for diagnosing delayed puberty.
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.
Mark
H F
HF
Laboratory of Cytogenetics, FISH and Genotoxicology, Brown University School of Medicine, Providence, Rhode Island 02903, USA.
Bayleran
J K
JK
Seifer
D B
DB
Meyers-Seifer
C H
CH
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
D004247:DNA