A Variant Chromosome 17 in a Mother with Repeated Abortions and a 46,XY/47,XXY Klinefelter Son

Abstract

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.