Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.
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.
Mutchinick
O
O
Departamento de Genética, Instituto Nacional de la Nutrición Salvador Zubrián, México, D.F.
Ramos
Z
Z
Sánchez
F
F
Ruz
L
L
Lisker
R
R
Ovseyevitz
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D014178:Translocation, Genetic