title: Unstable translocations: a new case?
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.
authors.affiliation: Istituto Clinica Pediatrica, University of Catania, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Mattina
authors.forename: G
authors.initials: G
authors.lastname: Milana
authors.forename: A
authors.initials: A
authors.lastname: D'Agata
authors.forename: L
authors.initials: L
authors.lastname: Conti
authors.forename: F
authors.initials: F
authors.lastname: Sciacca
mesh_terms: D002883:Chromosomes, Human, Pair 14; D004314:Down Syndrome / Q000235:genetics*; D005220:Fathers; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D014178:Translocation, Genetic / Q000235:genetics*