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Clinical Pediatrics
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A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty

Hon Fong Louie Mark

Laboratory of Cytogenetics, FISH and Genotoxicology, Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island

Janet K. Bayleran

Eastern Maine Medical Center, Bangor, Maine

David B. Seifer

Women and Infants Hospital and Brown University School of Medicine, Providence, Rhode Island

Cynthia H. Meyers-Seifer

Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island

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.

Clinical Pediatrics, Vol. 35, No. 2, 62-66 (1996)
DOI: 10.1177/000992289603500202
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