A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis

P. A. Gantt, J. R. Byrd, R. B. Greenblatt, Paul G McDonough

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.

Original languageEnglish (US)
Pages (from-to)216-221
Number of pages6
JournalFertility and sterility
Volume34
Issue number3
StatePublished - Jan 1 1980

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46,XY Gonadal Dysgenesis
Cytogenetics
Gonadoblastoma
Sexual Development
Mosaicism
Y Chromosome
Chromosome Aberrations
Clinical Studies
Phenotype
Kidney

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

Gantt, P. A., Byrd, J. R., Greenblatt, R. B., & McDonough, P. G. (1980). A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis. Fertility and sterility, 34(3), 216-221.

A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis. / Gantt, P. A.; Byrd, J. R.; Greenblatt, R. B.; McDonough, Paul G.

In: Fertility and sterility, Vol. 34, No. 3, 01.01.1980, p. 216-221.

Research output: Contribution to journalArticle

Gantt, PA, Byrd, JR, Greenblatt, RB & McDonough, PG 1980, 'A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis', Fertility and sterility, vol. 34, no. 3, pp. 216-221.
Gantt PA, Byrd JR, Greenblatt RB, McDonough PG. A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis. Fertility and sterility. 1980 Jan 1;34(3):216-221.
Gantt, P. A. ; Byrd, J. R. ; Greenblatt, R. B. ; McDonough, Paul G. / A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis. In: Fertility and sterility. 1980 ; Vol. 34, No. 3. pp. 216-221.
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