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- Title
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
- Authors
Rodríguez de Alba, M.; Sanz, R.; Lorda-Sanchez, I.; Fernández-Moya, J. M.; Ayuso, C.; Díaz-Recasens, J.; Ramos, C.; Rodríguez de Alba, M; Fernández-Moya, J M; Díaz-Recasens, J
- 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.
- Publication
Prenatal Diagnosis, 1999, Vol 19, Issue 9, p884
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/(SICI)1097-0223(199909)19:9<884::AID-PD655>3.0.CO;2-W