title: Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
abstract: It has been postulated that the deletion of band 13q22 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22-->qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Rodríguez de Alba
authors.forename: R
authors.initials: R
authors.lastname: Sanz
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: J M
authors.initials: JM
authors.lastname: Fernández-Moya
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: J
authors.initials: J
authors.lastname: Díaz-Recasens
authors.forename: C
authors.initials: C
authors.lastname: Ramos
mesh_terms: D020090:Chromosome Segregation; D002882:Chromosomes, Human, Pair 13; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D009006:Monosomy; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics; D014034:Toes / Q000002:abnormalities*; D014178:Translocation, Genetic; D014314:Trisomy