A combined cytogenetic and molecular approach for diagnosing delayed puberty

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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)62-66
Number of pages5
JournalClinical Pediatrics
Volume35
Issue number2
StatePublished - 1996
Externally publishedYes

Fingerprint

Delayed Puberty
Y Chromosome
X Chromosome
Cytogenetics
Chromosomes, Human, 21-22 and Y
Cell Line
Centromere
Diploidy
Karyotype
Leukocytes
Chromosomes
Polymerase Chain Reaction
Neoplasms

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Mark, H. F. L., Bayleran, J. K., Seifer, D., & Meyers-Seifer, C. H. (1996). A combined cytogenetic and molecular approach for diagnosing delayed puberty. Clinical Pediatrics, 35(2), 62-66.

A combined cytogenetic and molecular approach for diagnosing delayed puberty. / Mark, H. F L; Bayleran, J. K.; Seifer, David; Meyers-Seifer, C. H.

In: Clinical Pediatrics, Vol. 35, No. 2, 1996, p. 62-66.

Research output: Contribution to journalArticle

Mark, HFL, Bayleran, JK, Seifer, D & Meyers-Seifer, CH 1996, 'A combined cytogenetic and molecular approach for diagnosing delayed puberty', Clinical Pediatrics, vol. 35, no. 2, pp. 62-66.
Mark HFL, Bayleran JK, Seifer D, Meyers-Seifer CH. A combined cytogenetic and molecular approach for diagnosing delayed puberty. Clinical Pediatrics. 1996;35(2):62-66.
Mark, H. F L ; Bayleran, J. K. ; Seifer, David ; Meyers-Seifer, C. H. / A combined cytogenetic and molecular approach for diagnosing delayed puberty. In: Clinical Pediatrics. 1996 ; Vol. 35, No. 2. pp. 62-66.
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