Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
Open Access
- 1 April 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (2) , 114-119
- https://doi.org/10.1136/jmg.14.2.114
Abstract
A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.This publication has 18 references indexed in Scilit:
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