Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations
- 1 April 1984
- journal article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 142 (1) , 61-64
- https://doi.org/10.1007/bf00442594
Abstract
Three patients with partial monosomy of the long arm of chromosome 21 are reported. Each one presents several features of a 21q—syndrome but in cases 2 and 3, other chromosomes are involved, contributing to the variability of the clinical picture. Synthesis of clinical, enzymatic and cytogenetic findings confirms that the superoxide dismutase A (SOD-A) locus is in sub-band 21q22-1. However, it is not possible to localize precisely the segments responsible for the different clinical features of 21q — syndrome.Keywords
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