Gynecologic and cytogenetic aspects of gonadal agenesis and dysgenesis

Bassam Y. Barakat, Howard W. Jones

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The gynecologist sees patients with gonadal dysgenesis at a later age than the pediatrician, and his patients usually carry a greater variety of chromosomal aberrations, the most common being 45, X/46, XX mosaicism. Some patients are of normal height, have minor or no somatic anomalies, and even have menstrual cycles, yet they also have some form of cytogenetic abnormality. Clinical findings in 26 gynecologic patients with gonadal dysgenesis were correlated with the results of cytogenetic studies. The only positive karyotype-phenotype relationship was found between short stature and monosomy for the short arm of the X chromosome. In this series all patients with more than one X chromosome had a positive buccal smear, but the sex chromatin count did not correlate well with differential sex chromosomal findings from peripheral blood, especially in the presence of mosaicism.

Original languageEnglish (US)
Pages (from-to)368-372
Number of pages5
JournalObstetrics and gynecology
Issue number3
StatePublished - Sep 1970

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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