title: Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.
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.
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013482:Superoxide Dismutase / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D013482:Superoxide Dismutase