Source:http://linkedlifedata.com/resource/pubmed/id/11920892
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2002-3-28
|
| pubmed:abstractText |
Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0197-3851
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2002 John Wiley & Sons, Ltd.
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| pubmed:issnType |
Print
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| pubmed:volume |
22
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
193-7
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| pubmed:dateRevised |
2004-11-17
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| pubmed:meshHeading |
pubmed-meshheading:11920892-Amniocentesis,
pubmed-meshheading:11920892-Aneuploidy,
pubmed-meshheading:11920892-Chorionic Villi Sampling,
pubmed-meshheading:11920892-Chromosomes, Human, Pair 10,
pubmed-meshheading:11920892-Chromosomes, Human, Pair 13,
pubmed-meshheading:11920892-Chromosomes, Human, Pair 15,
pubmed-meshheading:11920892-Chromosomes, Human, Pair 4,
pubmed-meshheading:11920892-DNA Probes,
pubmed-meshheading:11920892-Female,
pubmed-meshheading:11920892-Heterozygote Detection,
pubmed-meshheading:11920892-Humans,
pubmed-meshheading:11920892-In Situ Hybridization, Fluorescence,
pubmed-meshheading:11920892-Interphase,
pubmed-meshheading:11920892-Pregnancy,
pubmed-meshheading:11920892-Prenatal Diagnosis,
pubmed-meshheading:11920892-Prospective Studies,
pubmed-meshheading:11920892-Telomere,
pubmed-meshheading:11920892-Translocation, Genetic
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes.
|
| pubmed:affiliation |
Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA. Pettenat@wfubmc.edu
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| pubmed:publicationType |
Journal Article,
Case Reports
|