A case of r(21) with stigmata of atypical Down syndrome
- 1 July 1980
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 55 (1) , 65-69
- https://doi.org/10.1007/bf00329128
Abstract
A case of r(21) with stigmata of atypical Down syndrome is presented. Karyotype of the proposita was determined as 45,XX,-21/46,XX,-21, +r(21)/47,XX,-21,+r(21),+(21). Most ring chromosomes showed double-sized ring chromosomes, which were trisomic for 21p11-21q22.3 and monosomic for 21q22.3-qter. SOD-1 activity revealed only slight elevation. The mechanism of ring formation is discussed.This publication has 15 references indexed in Scilit:
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