title: Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).
abstract: A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism; D014178:Translocation, Genetic; D014314:Trisomy