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Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations
O Mutchinick1, Z Ramos, F Sánchez
1Departamento de Genética, Instituto Nacional de la Nutrición Salvador Zubrián, México, D.F.
American Journal of Medical Genetics
|January 1, 1988
Abstract:
We report on 2 relatives with duplication 11q and deletion 5p, resulting from an adjacent-1 segregation of a balanced reciprocal translocation 5p15;11q23, segregating in 4 generations of this family. Twelve out of 16 at-risk relatives of inheriting the translocation were shown to be carriers, giving a significant (p less than .05) 3:1 ratio of carriers/noncarriers. The breakpoint on chromosome 11 at q23 is a folate sensitive fragile site into where the proto-oncogene c-ets has been mapped.