ABSTRACT

A newborn baby is born to non-consanguineous parents. She is noted to have puffy feet on her 1st day check. She weighs 2.0 kg with widely spaced nipples and absent femoral pulses. You have asked your registrar to review her as you think she may have Turner’s syndrome. She agrees and asks you to send blood tests for karyotyping. Which is the chromosomal diagnosis of Turner’s syndrome?