Chromosomal abnormalities associated with infertility

Joan M. Sulewski, Thao Phuong Dang, Karen A. Ferguson, Samuel P. Ward, Roger L. Ladda

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13 Scopus citations


From a population of 515 subfertile couples and 119 women with amenorrhea, 38 patients were karyotyped because of specific signs and symptoms suggestive of chromosomal abnormality. The indications for karyotyping included primary amenorrhea, secondary amenorrhea with gonadal failure before 35 years of age, stature of less than 147.5 cm, azoospermia with eunuchoidism, and personal or family history of more than 2 spontaneous abortions or more than 2 severely abnormal children. In addition, 19 patients from the same subfertile population were selected randomly for karyotyping to serve as controls. Using banding techniques, chromosomal abnormalities were found in 18 of the 38 specifically selected individuals, whereas no abnormality was found among those randomly selected. Three of the 18 patients had chromosomal abnormalities not previously described; their karyotypes were 46,XY/ 48,XY,+8,+21; 46,X,inv dup(Xq)(q26->q21); and 46,XY, t(9;20)(q22;q12).

Original languageEnglish (US)
Pages (from-to)469-475
Number of pages7
JournalObstetrics and gynecology
Issue number4
StatePublished - Apr 1980

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology


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