De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl
- PMID: 1081364
De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl
Abstract
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.
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