Rapid identification of marker chromosomes using primed in situ labeling (PRINS)

Primed in situ labeling (PRINS) is a relatively new technology with wide‐ranging applications in clinical cytogenetics. Using PRINS, we have identified the chromosomal origin of marker chromosomes in three patients. In the first patient with primary amenorrhea, we were able to confirm the marker chr...

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Bibliographic Details
Published in:American journal of medical genetics 1997-08, Vol.71 (2), p.130-133
Main Authors: Velagaleti, G. V. N., Tharapel, S. A., Martens, P. R., Tharapel, A. T.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Amenorrhea - genetics
Amniocentesis
Biological and medical sciences
Chromosome Aberrations - genetics
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 18 - genetics
Cytodiagnosis - methods
Cytogenetics
DNA Primers
DNA, Satellite
Female
FISH
Fundamental and applied biological sciences. Psychology
Genetic Markers
Genetics of eukaryotes. Biological and molecular evolution
Humans
In Situ Hybridization - methods
In Situ Hybridization, Fluorescence
Infant
Karyotyping
marker chromosomes
Metaphase
Methods and miscellaneous
Pregnancy
primers
PRINS
X Chromosome - genetics
Y Chromosome - genetics
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Summary:Primed in situ labeling (PRINS) is a relatively new technology with wide‐ranging applications in clinical cytogenetics. Using PRINS, we have identified the chromosomal origin of marker chromosomes in three patients. In the first patient with primary amenorrhea, we were able to confirm the marker chromosome as originating from an X. In the second (prenatal) case, PRINS allowed us to determine rapidly the origin of the marker as a Y chromosome. In the third patient with minor anomalies, the marker was identified as derived from a chromosome 18. In all three cases, application of PRINS permitted us to characterize the marker chromosomes within 1 hour after the slides were prepared. The methodology is simple, has added advantages over conventional fluorescence in situ hybridization (FISH), and can be used as a viable and effective alternative to FISH in clinical cytogenetic diagnosis. Am. J. Med. Genet. 71:127–129, 1997. © 1997 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19970808)71:2<130::AID-AJMG2>3.0.CO;2-1