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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
1996-2-14
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0964-6906
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
4
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1565-8
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8541840-Blotting, Southern,
pubmed-meshheading:8541840-Chromosome Deletion,
pubmed-meshheading:8541840-DNA,
pubmed-meshheading:8541840-Female,
pubmed-meshheading:8541840-Humans,
pubmed-meshheading:8541840-Karyotyping,
pubmed-meshheading:8541840-Male,
pubmed-meshheading:8541840-Turner Syndrome,
pubmed-meshheading:8541840-Y Chromosome
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.
|
| pubmed:affiliation |
Institut Pasteur, INSERM U276, Université Paris VII, France.
|
| pubmed:publicationType |
Journal Article
|