| Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. | |
| | |
MedLine Citation:
|
PMID: 20676750 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
PURPOSE: karyotype is a well established technique in the study of spontaneous miscarriages but is associated with selective overgrowth of maternal cells and other culture artefact (spp) such as tetraploidy, which could mask the true karyotype of the conceptus. METHODS: 328 cases of pregnancy losses were studied by karyotype and Multiplex Ligation Dependent Probe Amplification technique. Touch FISH performed in non-cultured cells was used to evaluate the ploidy complement and sex discrepancies using centromeric probes for chromosomes X, Y and 18. RESULTS: touch FISH confirmed 13 cases of maternal contamination, identified a triploidy and a monosomy X. True tetraploidy was confirmed in 7/14 cases studied. CONCLUSION: touch FISH protocol is extremely accurate in the distinction of genuine mosaicism from tissue culture artifacts namely in cases with suspicion of tetraploidy and can be used to confirm maternal cell contamination in cases with sex discrepancy between karyotype and MLPA. |
| | |
Authors:
|
Sofia Dória; Vera Lima; Berta Carvalho; Maria Lina Moreira; Mário Sousa; Alberto Barros; Filipa Carvalho |
Publication Detail:
|
Type: Journal Article Date: 2010-07-31 |
Journal Detail:
|
Title: Journal of assisted reproduction and genetics Volume: 27 ISSN: 1573-7330 ISO Abbreviation: J. Assist. Reprod. Genet. Publication Date: 2010 Nov |
Date Detail:
|
Created Date: 2010-11-24 Completed Date: 2011-04-01 Revised Date: 2011-11-01 |
Medline Journal Info:
|
Nlm Unique ID: 9206495 Medline TA: J Assist Reprod Genet Country: Netherlands |
Other Details:
|
Languages: eng Pagination: 657-62 Citation Subset: IM |
Affiliation:
|
Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal. sdoria@med.up.pt |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abortion, Spontaneous
/
genetics* Cells, Cultured DNA Contamination Female Humans In Situ Hybridization, Fluorescence / methods* Karyotyping Mosaicism* Pregnancy Sensitivity and Specificity Tetraploidy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Complete nucleotide sequences of avian metapneumovirus subtype B genome.
Next Document: Seminal plasma homocysteine, folate and cobalamin in men with obstructive and non-obstructive azoosp...