title: Chromosomes and the gynecologist.
abstract: Recent advances in cytogenetic techniques made a valuable contribution toward the modern practice of obstetrics and gynecology. The state of the art regarding the application of these techniques is reviewed in the following areas: the clinical features related to the various sex and autosomal chromosomal anomalies, the cytogenetics of gynecologic malignancies, the chromosomal analysis of spontaneous abortion and of parents with habitual abortions. Chromosome studies in male infertility revealed abnormalities in 11.5 per cent of 69 patients with azoospermia and 9.1 per cent of 165 patients with oligospermia. Among 77 patients with primary amenorrhea, 27.3 per cent revealed chromosomal abnormalities compared to 3.8 per cent in 103 patients with secondary amenorrhea. The term "ovotesticular dysgenesis" is used for the first time in the literature to describe a specific histologic type of streak gonad which contains ovarian stroma and dysgenetic testicular tubules.
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000027:Abortion, Incomplete / Q000235:genetics; D000568:Amenorrhea / Q000209:etiology / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002877:Chromosomes, Human; D003582:Cytogenetics; D012734:Disorders of Sex Development / Q000235:genetics; D005260:Female; D005833:Genital Neoplasms, Female / Q000235:genetics; D006176:Gynecology; D006801:Humans; D007231:Infant, Newborn; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D014314:Trisomy; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome