title: Isochromosome not translocation in trisomy 21q21q.
abstract: After primary trisomy, "de novo" 21q21q trisomy is the most frequent chromosomal aberration responsible for Down syndrome. This rearrangement is more commonly referred to as a Robertsonian translocation or centric fusion product than as an isochromosome, e.g., t(21q;21q) instead of i(21q); however, in practice, it has not so far proved possible to distinguish between these alternatives. The aim of this work was to establish which of the two alternatives is acceptable.
authors.affiliation: Centro di Genetica Umana, E. O. Ospedali Galliera, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Grasso
authors.forename: M L
authors.initials: ML
authors.lastname: Giovannucci Uzielli
authors.forename: M
authors.initials: M
authors.lastname: Pierluigi
authors.forename: F
authors.initials: F
authors.lastname: Tavellini
authors.forename: L
authors.initials: L
authors.lastname: Perroni
authors.forename: F
authors.initials: F
authors.lastname: Dagna Bricarelli
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008423:Maternal Age; D010331:Paternal Age; D011110:Polymorphism, Genetic; D015183:Restriction Mapping; D014178:Translocation, Genetic