49, XYYYY. A case report

Abstract
A 14-mo.-old body with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ [developmental quotient] of 70.

This publication has 11 references indexed in Scilit: