HUM-MOLGEN DIAGnostics/Clinical Research

6 August 1998
Coarctation in a 47XXY 

We recently saw a 6 year old phenotypically male child with penoscrotal translocation, unilateral cryptorchidism, coarcation of the aorta requiring surgery in early neonatal period, and true shortening of the left tibia.
He is hyperactive. His karyotype was 47XXY. Has anyone ever seen coarctation in a 47XXY?

How about true shortening of the lower limb?

Please reply directly to my email address. Thanks very much

Agnes Tay
Dept of Pediatrics, National University of Singapore