Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature

Short stature is a common finding in patients with Ullrich-Turner syndrome. Structural abnormalities involving the terminal short arms of the X and Y chromosomes have been shown to lead to short stature, A putative locus affe cting height called PHOG/SHOX has been localized to a 170-kb, critical regi on within the pseudoautosomal region (PAR), It contains a homeodomain and f unctions as a transcription factor. We have studied a 10-year-old boy with idiopathic short stature who was found to have a unique Y;13 translocation, Southern blot analysis using cDNA probes indicated that most of the PAR, i ncluding PHOG/SHOX, was lost as a result of this translocation, We conclude that haploinsufficiency for this gene is responsible for the growth failur e in our patient, Treatment with recombinant growth hormone has resulted in greatly improved growth velocity, (C) 1999 Wiley-Liss, Inc.