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Case Reports
. 1999 Sep;19(9):884-6.
doi: 10.1002/(sici)1097-0223(199909)19:9<884::aid-pd655>3.0.co;2-w.

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

M Rodríguez de Alba  1 , R Sanz, I Lorda-Sanchez, J M Fernández-Moya, C Ayuso, J Díaz-Recasens, C Ramos
Affiliations
Case Reports

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

M Rodríguez de Alba et al. Prenat Diagn. 1999 Sep.

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.

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