SOD-A and chromosome 21 |
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| Authors: | N J Leschot R M Slater H Joenje M J Becker-Bloemkolk J J de Nef |
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| Institution: | (1) Institute of Human Genetics, University of Amsterdam, Sarphatistraat 217, 1018 BX Amsterdam, The Netherlands;(2) Department of Human Genetics, Free University Amsterdam, Amsterdam, The Netherlands;(3) Department of Pathology, Juliana Hospital, Zaandam, The Netherlands;(4) Department of Pediatrics, Maria Stichting Hospital, Haarlem, The Netherlands |
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| Abstract: | 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 9p24 and segment 21pter21q214, 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. |
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