1991•Clinical GeneticsRequires access

Unstable translocations: a new case?

Teresa Mattina, Gabriella Milana, Antonio D’Agata, Letizia Conti, Federica Sciacca

Abstract

A female patient with Down syndrome due to unbalanced Robertsonian translocation (14;21) is reported. A different Robertsonian translocation involving a chromosome no. 14 was observed in her father, who was a carrier of a balanced Robertsonian t(13;14), while the maternal karyotype was normal. Hypotheses about the origin of the translocation in the daughter are discussed.

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Available abstract

Key concepts: Chromosomal translocation, Robertsonian translocation, Karyotype, Daughter, Genetics, Biology, Chromosome, Evolutionary biology