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Vol. 25, No. 6, 1975
Issue release date: 1975
Section title: Paper
Hum Hered 1975;25:442–452
(DOI:10.1159/000152759)

Partial D 15 Trisomy

A Case and General Review

Centerwall W.R. · Morris J.P.
Genetics and Chromosome Services, Loma Linda University Medical Center, Loma Linda, San Bernardino County General Hospital, San Bernardino, Calif.

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 8/28/2008
Issue release date: 1975

Number of Print Pages: 11
Number of Figures: 0
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE

Abstract

A profoundly retarded girl with cyanotic congenital heart disease, recurrent myoclonic seizures, an external strabismus and not very unusual facial features was found to have a 47, XX chromosome complement. The extra chromosome is a small G-size chromosome with small projections extending from the ends of the long arms and no satellites observed on the short arms. By Giemsa-trypsin banding techniques this aberrant chromosome appears to be a partially deleted D 15 chromosome. A comparison of the clinical features is made with those described in the nine other reported specifically identified cases of ‘partial trisomy 15’. For clinical and chromosome morphology reasons, this was felt not to be trisomy in the G group nor an extra Y. We speculate that the long arm projections are satellites derived from a ring-type intrachromosomal translocation.

© 1975 S. Karger AG, Basel


  

Author Contacts

Prof. W. R. Center wall, Genetics and Chromosome Services, Loma Linda University Medical Center, Loma Linda, Calif. (USA)

  

Article Information

Published online: August 28, 2008
Number of Print Pages : 11

  

Publication Details

Human Heredity (International Journal of Human and Medical Genetics)

Vol. 25, No. 6, Year 1975 (Cover Date: 1975)

Journal Editor: Devoto M. (Philadelphia, Pa.)
ISSN: 0001–5652 (Print), eISSN: 1423–0062 (Online)

For additional information: http://www.karger.com/HHE


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 8/28/2008
Issue release date: 1975

Number of Print Pages: 11
Number of Figures: 0
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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