De novo occurrence of 46,XX,t (4;13) (q31;q14) in a mentally retarded girl
Jenkins, E.C.; Curcuru-Giordano, F.M.; Krishna, S.G.; Cantarella, J.
Annales de Genetique 18(2): 117-120
1975
ISSN/ISBN: 0003-3995 PMID: 1081364 Document Number: 85071
A 12 year-old mentally retarded girl with multiple congenital malformations presented with an apparently new chromosome abnormality involving a de novo balanced reciprocal translocation between part of the long arms of chromosomes 4 and 13. This was observed in 291 metaphase spreads derived from short-term leucocyte and skin fibroblast cultures.