Mattina T, Milana G, D'Agata A, Conti L, Sciacca F
Istituto Clinica Pediatrica, University of Catania, Italy.
Clin Genet. 1991 Feb;39(2):149-50. doi: 10.1111/j.1399-0004.1991.tb03002.x.
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.