A variant chromosome 17 in a mother with repeated abortions and a 46, XY/47, XXY Klinefelter son.
A female with a satellited chromosome 17 is presented. She had suffered repeated abortions and later gave birth to a 46,XY/47,XXY Klinefelter boy. The significance of the variant chromosome 17 in the etiology of the mother's reproductive failure is discussed. The mental and physical development of her now 8-year-old 46,XY/47,XXY son has been checked regularly since birth. The boy showed a significant deviation in behaviour pattern and development of body habitus already from early infancy.
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002648:Child; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy