SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

Human genetics ·Vol. 57 ·No. 2 ·1981-00-00 ·Pages 220-3

Leschot NJ, Slater RM, Joenje H, Becker-Bloemkolk MJ, de Nef JJ

Abstract

A balanced maternal chromosome translocation (9p24;21q214) resulted in two offspring with unbalanced karyotypes. One of these, a girl trisomic for both segment 9pter to 9p24 and segment 21pter to 21q214, was found to have a SOD-A activity not significantly different from those found in a group of five cases with trisomy 21. However, clinical evaluation of this girl revealed no symptoms of the Down syndrome. These findings suggest that, providing the gene dosage theory is correct, the gene for SOD-A is probably localized on chromosome 21 proximal to, or in, band q21.

MeSH Terms

Child Chromosome Aberrations/enzymology,genetics Chromosome Disorders Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Female Humans Infant, Newborn Intellectual Disability/genetics Karyotyping Male Superoxide Dismutase/genetics Translocation, Genetic

Chemicals

Superoxide Dismutase

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Leschot N J

Slater R M

Joenje H

Becker-Bloemkolk M J

de Nef J J

References (14)

14 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00282029

Published

1981-00-00

Pages

220-3

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00282029 View journal details

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SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

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