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    
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.
G V Velagaleti; N J Carpenter; A T Tharapel
Related Documents :
11980734 - Multiplex interphase fish as a screen for common aneuploidies in spontaneous abortions.
2297044 - Detection of numerical chromosomal abnormalities in neoplastic hematopoietic cells by i...
9099584 - Fish landmarks for aedes aegypti chromosomes.
11221864 - Simultaneous detection of multiple genetic aberrations in single cells by spectral fluo...
17599064 - Blm is required for faithful chromosome segregation and its localization defines a clas...
10720874 - Sonographic, cytogenetic and dna analysis in four 69,xxx fetuses diagnosed in the secon...
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    
Clinical and Molecular Cytogenetics Laboratory, The University of Tennessee, Memphis, Tennessee, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Mapping
Fetus / physiology*
Genetic Markers*
In Situ Hybridization, Fluorescence / methods*
Polymerase Chain Reaction*
Reproducibility of Results
Sensitivity and Specificity
Reg. No./Substance:
0/Genetic Markers

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

Previous Document:  A recombination event close to HFE gene in hereditary hemochromatosis.
Next Document:  18p monosomy with midline defects and a de novo satellite identified by FISH.