Partial trisomy 13 due to maternal translocation t(7;13)(p22q14).
The third child of a mother with a balanced translocation (7;13) revealed a partial trisomy of chromosome 13. The cytogenetic study by conventional techniques and GTG, QFQ, THA and CBG banding techniques showed the chromosomal complement of the proposita to be 46,XX,-7,+t(7;13)(7qter leads to 7p22::13q14 leads to 13qter). A prominent intensely fluorescent satellite was observed on the 13q- of the patient's grand-mother. This satellite was not found on any chromosome in any other member of the family.
D002478:Cells, Cultured; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy