Source:http://linkedlifedata.com/resource/pubmed/id/12397218
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
2002-10-24
|
| pubmed:abstractText |
During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turner's syndrome (45,X), several highly polymorphic STR on the X chromosome are needed in order to reduce the likelihood that a normal female might be homozygous for all sequences and, consequently, that the test could fail to discriminate between samples retrieved from a Turner's and a normal female fetus. Here we report a new method for rapid and accurate detection of X chromosome copy number in prenatal samples that does not depend on STR heterozygosity. The test is based on QF-PCR amplification of the X-linked HPRT together with the autosomal D21S1411 used as internal control for quantification. In the course of this study, this assay allowed the prenatal diagnosis of a rare case of a normal female homozygous for four selected highly polymorphic X chromosome STR, as well as the assessment of the normal chromosome complement of a fetus homozygous for five chromosome 21 markers.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
1360-9947
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
8
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1042-5
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:12397218-Amniocentesis,
pubmed-meshheading:12397218-Aneuploidy,
pubmed-meshheading:12397218-Chromosomes, Human, X,
pubmed-meshheading:12397218-Dosage Compensation, Genetic,
pubmed-meshheading:12397218-Female,
pubmed-meshheading:12397218-Fetal Diseases,
pubmed-meshheading:12397218-Fluorescence,
pubmed-meshheading:12397218-Genetic Markers,
pubmed-meshheading:12397218-Heterozygote,
pubmed-meshheading:12397218-Humans,
pubmed-meshheading:12397218-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:12397218-Male,
pubmed-meshheading:12397218-Pregnancy,
pubmed-meshheading:12397218-Prenatal Diagnosis,
pubmed-meshheading:12397218-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12397218-Sex Chromosome Aberrations,
pubmed-meshheading:12397218-Sex Chromosome Disorders,
pubmed-meshheading:12397218-Tandem Repeat Sequences,
pubmed-meshheading:12397218-Turner Syndrome
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies.
|
| pubmed:affiliation |
Departament de Genética Molecular, General Lab, Barcelona 08021, Spain. v_cirigliano@hotmail.com
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|