Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p.
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.
Tihy
F
F
Service de Génétique Médicale, Hôpital Ste-Justine, University of Montreal, Montreal, Quebec, Canada.
Lemyre
E
E
Dallaire
L
L
Lemieux
N
N
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