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PubMed · 1826645

Unstable translocations: a new case?

T Mattina·G Milana·A D'Agata·L Conti·F Sciacca
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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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Chromosomes, Human, Pair 14Down SyndromeFathersFemaleGenetic Carrier ScreeningHumansInfant, NewbornKaryotypingPedigreeTranslocation, GeneticCase ReportsJournal Article

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T Mattina, G Milana, A D'Agata, L Conti, F Sciacca. 1991. Unstable translocations: a new case?. https://doi.org/10.1111/j.1399-0004.1991.tb03002.x

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