De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D003582:Cytogenetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D014178:Translocation, Genetic