A combined cytogenetic and molecular approach for diagnosing delayed puberty

H. F.L. Mark, J. K. Bayleran, D. B. Seifer, C. H. Meyers-Seifer

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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 languageEnglish (US)
Pages (from-to)62-66
Number of pages5
JournalClinical pediatrics
Issue number2
StatePublished - 1996

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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