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 hypothesised that this specific phenotype was the consequence of the haploinsuf...

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Bibliographic Details
Published in:Human molecular genetics 1995-09, Vol.4 (9), p.1565-1568
Main Authors: Barbaux, Sandrine, Vilain, Eric, Raoul, Odile, Gilgenkrantz, Simone, Jeandidier, Eric, Chadenas, Denis, Souleyreau, Nicole, Fellous, Marc, McElreavey, Ken
Format: Article
Language:English
Subjects:
Biological and medical sciences
Blotting, Southern
Chromosome aberrations
Chromosome Deletion
DNA
Female
Humans
Karyotyping
Male
Medical genetics
Medical sciences
Turner Syndrome - genetics
Y Chromosome
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Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/4.9.1565