Four Stem-Line Mosaicism (XO/XY/XXY/XYY) in an Infant with Ambiguous External Genitalia

Publisher Website
Google Scholar
Abstract
A 5-week-old infant with ambiguous external genitalia and a negative sex chroma tin pattern is described. The karyotype was interpreted as XO/XY/XXY/XYY mosaicism in cells derived from leukocyte cultures and XO/XY in cells derived by culture of tissue biopsies. Such a mosaic karyotype may be explained by mitotic nondisjunction involving both the X and Y chromosomes in more than one cell. At laparotomy a rudimentary fallopian tube was found in one inguinal region and a round ligament in the other. No gonads or uterus were detected. When examined at 3 yr of age, this child was below the third percentile in height and weight but appeared normal in her mental development.