title: Robertsonian translocations and abnormal phenotypes. Groupe de Cytogénéticiens Français.
abstract: The Groupe de Cytogénéticiens Français collected 32 cases of Robertsonian translocations with an abnormal phenotype of which 21 t(13q;14q)'s. Nineteen were inherited, four had had occurred de novo; and nine were of unknown origin. The 21 t(13q;14q)'s were grouped according to the phenotype. Some suggested partial 13 trisomy (hexadactyly; eye defect), others partial 13 monosomy (facial dysmorphism; thumb anomalies). Three de novo t(15;15)'s with Prader-Willi syndrome show that non identifiable partial monosomies may be associated with the occurence of Robertsonian translocations. The mechanism leading to the fusion of accrocentrics are discussed.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000503:physiopathology*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D015337:Multicenter Studies as Topic; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic