Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation.
A family is described in which three siblings had congenital abnormalities consistent with partial trisomy 9q syndrome. Karyotyping indicated that the mother was a carrier of two separate balanced reciprocal translocations involving three chromosomes (46,XX,t (6;8;9)(6q27;8p23;9q32;9q13] resulting from four breakpoints. The three siblings had inherited the der(8) from their mother and hence were partially trisomic for 9q32----9qter and partially monosomic for 8p23----8pter (46,XX,der(8),t(8;9)(p23;q32)mat). The clinical features of the three cases were comparable to those reported in the literature.
D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy