Archidiacono N, Rocchi M, de Vonderweid U, Filippi G
Hum Genet. 1978 Feb 16;40(3):325-31. doi: 10.1007/BF00272193.
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.
报道了一例源自母源t(9/22)的9号染色体短臂三体病例。该重排的特征是9号染色体着丝粒分裂以及核仁组织区从22号染色体易位至9号染色体长臂。基于各种带型模式对着丝粒分裂假说进行了讨论。该病例还显示出异常的膝关节脱位。