XXXYY variant of Klinefelter syndrome: A case report
Abstract
This case report is about a 19-month-old boy, product of an in vitro fertilization twin pregnancy and born to young non-consanguineous parents, who presented with speech and motor developmental delay. Upon genetic evaluation, he was found to have the rare variant XXXYY of Klinefelter syndrome.
Keywords:
chromosome aneuploidy
genetic disease
rare