Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1994-1-19
pubmed:abstractText
Cytogenetic studies on an azoospermic male revealed a balanced Y;1 translocation: 46,X,t(Y;1)(q12;p34.3). In situ hybridization with the probe St35-239 (DXY64) and with a probe detecting telomeric sequences revealed that only the Y telomere is involved in the translocation. Fluorescence in situ hybridization with a chromosome 1 library on meiotic preparations revealed consistent contact of the painted chromosome 1 with the sex vesicle at pachytene, the most advanced stage of spermatogenesis observed. No deletions were observed after Southern blot analysis with probes p49f (DYS1), 50f2 (DYS7), and 52d (DYF27), which map in interval 6 of the Y chromosome, which includes the azoospermia factor (AZF) gene. The results indicate that the infertility of the translocation carrier could be due to an alteration of the sex vesicle structure or to a disturbance of X-chromosome inactivation as a result of the proximity to the autosomal portion.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0301-0171
pubmed:author
pubmed:issnType
Print
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
256-60
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Molecular analysis of a human Y;1 translocation in an azoospermic male.
pubmed:affiliation
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
pubmed:publicationType
Journal Article, Review, Case Reports