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[Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].

O Raoul, Rethoré Mo, B Dutriliaux, Laetitia Michon, J Lejeune

Abstract

A balanced reciprocal translocation t(10;14)(p15.2;q22) is present in the mother and the maternal grand mother of two boys. One, with a normal phenotype, received the balanced translocation, the other, exhibiting congenital malformations, is trisomic for the proximal part of 14q.

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Available abstract

Key concepts: Chromosomal translocation, Biology, Partial Trisomy, Trisomy, Phenotype, Genetics, Karyotype, Aneuploidy