title: Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.
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.
authors.affiliation: Departamento de Genética, Instituto Nacional de la Nutrición Salvador Zubrián, México, D.F.
authors.forename: O
authors.initials: O
authors.lastname: Mutchinick
authors.forename: Z
authors.initials: Z
authors.lastname: Ramos
authors.forename: F
authors.initials: F
authors.lastname: Sánchez
authors.forename: L
authors.initials: L
authors.lastname: Ruz
authors.forename: R
authors.initials: R
authors.lastname: Lisker
authors.forename: J
authors.initials: J
authors.lastname: Ovseyevitz
mesh_terms: 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