t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.
A case of trisomy 9p originating from t(9/22) mat is reported. The rearrangement is characterized by centric fission of chromosome 9 and by translocation of NOR from chromosome 22 to 9q. The hypothesis of centric fission is discussed on the basis of various banding patterns. The case also reveals unusual knee dislocation.
D002466:Cell Nucleolus; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital; D007621:Karyotyping; D007719:Knee Joint; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy