title: Pure duplication 21q21.2-->qter due to a rea(21) in a Down syndrome girl. Remarks on nomenclature.
abstract: We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter-->p12::q21.2-->qter).ish rea(21)(qter-->pl2::q21.2-->qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the father was unavailable. The great resemblance of the patient's rearranged chromosome to the rec(21)dup(q) from a parental pericentric inversion suggests that it would be better depicted as a recombinant-like chromosome. Altogether, 13 recombinant-like chromosomes of de novo or unknown (parents not karyotyped) origin have been described. Although these rearranged chromosomes should formally be described as derivatives because no parental inversion is identified, we underlie that the unofficial term recombinant-like would be more appropriate because no "multiple aberrations within a single chromosome" (as required by the ISCN) have been proved, not to mention that the term derivative usually designates abnormal chromosomes resulting from a translocation between non homologous chromosomes. Accordingly, we prefer to identify such rearrangements of a single chromosome precisely with the more neutral and sanctioned term rea (expanding its use to designate a rearranged chromosome) coupled with the lengthy description of the abnormal chromosome. We assume that the rea(21) chromosomes result from illegitimate recombination between non allelic homologous LCRs located in both the short and long arms.
authors.affiliation: Centro de Investigaci6n Biomtdica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
authors.forename: M G
authors.initials: MG
authors.lastname: Dominguez
authors.forename: G
authors.initials: G
authors.lastname: Arteaga-Alcaraz
authors.forename: H
authors.initials: H
authors.lastname: Rivera
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D007446:Chromosome Inversion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007621:Karyotyping; D000091402:Prohibitins; D015183:Restriction Mapping; D009626:Terminology as Topic; D014178:Translocation, Genetic