Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Abstract

Turner syndrome is a complex human disorder that generally associates a 45, X karyotype to a female phenotype presenting with gonadal dysgenesis, short stature and a number of characteristic somatic features. It has been hypothesised that this specific phenotype was the consequence of the haploinsuffic-iency of some X-linked genes having functional homologs on the Y chromosome. Here we describe four patients with deletions of the long arm of their Y chromosome and presenting with azoospermia and with or without Turner stigmata. Analysis of their breakpoints by Southern blotting and Y-specific sequence tagged sites (STS) allows us to delimit a region located in proximal interval 5 of the Y chromosome involved in skeletal development and growth.