Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
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.
Rodríguez de Alba
M
M
Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
Sanz
R
R
Lorda-Sanchez
I
I
Fernández-Moya
J M
JM
Ayuso
C
C
Díaz-Recasens
J
J
Ramos
C
C
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