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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.
Clinical Genetics – Wiley
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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