Linked Life Data

8432191

Source:http://linkedlifedata.com/resource/pubmed/id/8432191

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-3-12
pubmed:abstractText
Understanding the segregational behaviour of reciprocal translocations in man is of both theoretical and clinical importance. Generally, information for genetic counselling is obtained from empirical data although knowledge of gametic output can now be obtained by karyotyping individual human spermatozoa. However, neither empirical studies nor sperm karyotyping data provide detailed information on how the combinations of normal, balanced and unbalanced gametes arise. For this knowledge of quadrivalent orientation and first meiotic segregation is required. We have used dual colour fluorescence in situ hybridisation (FISH) to identify normal and derived chromosomes during meiosis in testicular biopsy material from a 46,XY,t(15;20)(q11.2;q11.2) heterozygote. We were able to determine the frequencies of different quadrivalent structures at first metaphase (MI) and the proportion of first meiotic divisions subject to interstitial chiasmata. Having identified all 2:2, 3:1 and 4:0 segregation products at second metaphase, it was possible to correlate segregation categories with the various forms of MI quadrivalent possibly indicating their modes of orientation. Finally the ratios of normal:balanced:unbalanced gametes expected to be produced by this translocation heterozygote were calculated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0009-5915
pubmed:author
pubmed:issnType
Print
pubmed:volume
102
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
102-11
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation.
pubmed:affiliation
Regional Genetics Services, DNA Laboratory, Yardley Green Unit, East Birmingham Hospital, England, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't