Document Detail


Clinical applications of primed in situ labelling (PRINS) rapid identification of a marker chromosome in a fetus.
MedLine Citation:
PMID:  9401104     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Marker chromosomes pose a serious problem in clinical cytogenetic diagnosis since the conventional banding analyses are often not useful in identifying their origin or composition. In the absence of information, counseling as to the clinical significance and prognosis is difficult, especially in prenatal diagnosis. With the introduction of fluorescence in situ hybridization (FISH) marker identification has became feasible. However, FISH is relatively time-consuming and expensive. In an effort to overcome these disadvantages, we have used primed in situ labelling (PRINS) technique as an alternative. Presented here is one case in which PRINS was useful in rapidly identifying the origin of a marker chromosome detected on amniotic fluid chromosome analysis. Based on our experience with this case and others, we propose that PRINS can become a viable and cost effective alternative to FISH and is as reliable as FISH in terms of accuracy, specificity, and sensitivity.
Authors:
G V Velagaleti; N J Carpenter; A T Tharapel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  40     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1997  
Date Detail:
Created Date:  1998-01-14     Completed Date:  1998-01-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  154-7     Citation Subset:  IM    
Affiliation:
Clinical and Molecular Cytogenetics Laboratory, The University of Tennessee, Memphis, Tennessee, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis
Chromosome Mapping
Female
Fetus / physiology*
Genetic Markers*
Humans
In Situ Hybridization, Fluorescence / methods*
Karyotyping
Polymerase Chain Reaction*
Pregnancy
Reproducibility of Results
Sensitivity and Specificity
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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