NDLI: Rapid detection of human chromosome 21 aberrations by in situ hybridization.

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Rapid detection of human chromosome 21 aberrations by in situ hybridization.

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Rapid detection of human chromosome 21 aberrations by in situ hybridization.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Manuelidis, L. Lichter, P. Tang, C. J. Ward, D. C. Cremer, T. Watkins, P. C.
Description	Author Affiliation: Lichter P ( Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.);
Abstract	Plasmid clones containing up to 94 kilobases of single-copy DNA from band q22.3 of chromosome 21 and a complete pool of insert DNA from a chromosome 21 recombinant library have been used to rapidly detect numerical and structural aberrations of chromosome 21 by in situ hybridization in both metaphase and interphase cells. A trisomic karyotype, diagnostic of Down syndrome, is readily detected in nonmitotic cells because the majority of their nuclei exhibit three discrete foci of hybridization, in contrast to normal diploid cells, which show two foci. Chromosomal translocations involving chromosome 21 sequences were also detected with these probes, and the intranuclear location of 21q22.3 DNA sequences in 'normal' human brain neurons was established with the plasmid DNA probe set. These results suggest that chromosome 21-specific probes may have utility in clinical diagnostics, especially by facilitating the direct analysis of interphase cells.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	24
Volume Number	85
Language	English
Publisher	National Academy of Sciences
Publisher Date	1988-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Chromosome Aberrations Chromosomes, Human, Pair 21 Brain Chemistry DNA Probes Down Syndrome Diagnosis Genetics Glioma Karyotyping Nucleic Acid Hybridization Prenatal Diagnosis Translocation, Genetic Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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