Abstract
A phenotypic female aged 15 1/12 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 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 gonadetectomy, 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.
Original language | English (US) |
---|---|
Pages (from-to) | 62-66 |
Number of pages | 5 |
Journal | Clinical pediatrics |
Volume | 35 |
Issue number | 2 |
State | Published - 1996 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health