Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.
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 hypothesized that this specific phenotype was the consequence of the haploinsufficiency 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.
Institut Pasteur, INSERM U276, Université Paris VII, France.
S
S
Barbaux
E
E
Vilain
O
O
Raoul
S
S
Gilgenkrantz
E
E
Jeandidier
D
D
Chadenas
N
N
Souleyreau
M
M
Fellous
K
K
McElreavey
D015139:Blotting, Southern; D002872:Chromosome Deletion; D004247:DNA; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
D004247:DNA