Asymmetrical, reciprocal translocation (45,XX,tdic(9;17) (p21;p12).
A nine-month-old girl with dysmorphic features, congenital heart disease and chromosomal mosaicism is reported. Approximately one-half of the cells (lymphocytes and fibroblasts) showed a normal karyotype 46, XX, the other half a dicentric translocation chromosome. Using the G-band technique, the dicentric chromosome was identified as a 9/17 translocation chromosome. Both centromeres of the translocation chromosome could be stained to the same degree, using the C-band technique. The centromere region of chromosome No. 9 was in addition demonstrated, by using the Giemsa 11 technique.
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005260:Female; D006330:Heart Defects, Congenital / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D014178:Translocation, Genetic