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© 1995 Oxford University Press

OTHER

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

Sandrine Barbaux*, Eric Vilain, Odile Raoul1, Simone Gilgenkrantz2, Eric Jeandidier3, Denis Chadenas4, Nicole Souleyreau, Marc Fellous and Ken McElreavey*

Immunogénétique Humaine, Institut Pasteur, INSERM U276, Université Paris VII, 25 rue du Dr Roux, 75724 Paris Cedex 15 1Service d'Histo-embryologie et Cytogenetique, Hopital Necker-Enfants Malades 149 rue de Sevres, 75015 Paris 2Laboratoire de Cytogenetique, Centre Regional de Transfusion et d'Hematologie av de Bourgogne, 54511 Vandoeuvre-les-Nancy 3Laboratoire de Cytogenetique, Centre Hospitalier BP 1070, 68051 Muthouse 4Centre Hospitalier, Hopital de la Source, BP 6709, 45067 Orleans Cedex 2 France

*To whom correspondence be addressed

Received March 28, 1995; Accepted May 16, 1995

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.


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