title: Down syndrome with unusual chromosome translocation: case report and review.
abstract: We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.
authors.affiliation: Istituto di Pediatria, Universita La Sapienza di Roma, Italie.
authors.forename: L
authors.initials: L
authors.lastname: Bruni
authors.forename: R
authors.initials: R
authors.lastname: Capolino
authors.forename: M C
authors.initials: MC
authors.lastname: Tozzi
authors.forename: F
authors.initials: F
authors.lastname: Colloridi
authors.forename: M P
authors.initials: MP
authors.lastname: Smacchia
mesh_terms: D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics; D014178:Translocation, Genetic