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

✍ Scribed by M. Rodríguez de Alba; R. Sanz; I. Lorda-Sanchez; J. M. Fernández-Moya; C. Ayuso; J. Díaz-Recasens; C. Ramos

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
168 KB
Volume
19
Category
Article
ISSN
0197-3851

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✦ Synopsis

It has been postulated that the deletion of band 13q32 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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