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

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 fi...

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Bibliographic Details
Published in:Human genetics 1981-01, Vol.57 (2), p.220-223
Main Authors: Leschot, N J, Slater, R M, Joenje, H, Becker-Bloemkolk, M J, de Nef, J J
Format: Article
Language:English
Subjects:
Child
Chromosome Aberrations - enzymology
Chromosome Aberrations - 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
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00282029