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Supernumerary chromosomes in six patients

Supernumerary chromosomes in six patients Cytogenetic investigations on five constitutional supernumeraries are presented and correlated to the clinical picture of carriers. Two severely mentally retarded, unrelated patients had similar but not identical inv dup (15) chromosomes and one mildly retarded patient had a small centric fragment, probably a ring chromosome; one infertile man, and a normal father and daughter had double NOR-stained metacentric markers, interpreted to be entirely heterochromatic. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Supernumerary chromosomes in six patients

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References (21)

Publisher
Wiley
Copyright
1982 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1982.tb01394.x
Publisher site
See Article on Publisher Site

Abstract

Cytogenetic investigations on five constitutional supernumeraries are presented and correlated to the clinical picture of carriers. Two severely mentally retarded, unrelated patients had similar but not identical inv dup (15) chromosomes and one mildly retarded patient had a small centric fragment, probably a ring chromosome; one infertile man, and a normal father and daughter had double NOR-stained metacentric markers, interpreted to be entirely heterochromatic.

Journal

Clinical GeneticsWiley

Published: Jun 1, 1982

Keywords: Antenatal diagnosis; constitutional; de novo; familial; infertility; inv dup (15); marker; mental retardation; minor malformations; NOR positive; supernumerary

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