title: Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p.
abstract: We describe a child with a supernumerary chromosome defined as der(9)t(9;22) (q12;p11), resulting in trisomy 9p and trisomy 22p. The mother carried the balanced translocation. In G- and C-banding the derivative chromosome 9 appeared to be dicentric and to contain 22q material. Using in situ hybridization we defined the exact breakpoints of the translocation and ruled out the possibility of a centric fission in the mother's chromosomes.
authors.affiliation: Service de Génétique Médicale, Hôpital Ste-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Tihy
authors.forename: E
authors.initials: E
authors.lastname: Lemyre
authors.forename: L
authors.initials: L
authors.lastname: Dallaire
authors.forename: N
authors.initials: N
authors.lastname: Lemieux
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017403:In Situ Hybridization; D007223:Infant; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy