Pfeiffer R A, Trautmann U, Hirmer-Stoll R
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Ann Genet. 1991;34(3-4):247-51.
In a mentally retarded female an interstitial deletion of a chromosome 9 and an additional ring chromosome was shown, which by positive hybridisation with a no 9 library was considered to be the excised segment. The functional centromere and C and DA/DAPI positive material as well on the ring chromosome are explained by a break within the centromere close to the constitutive heterochromatin and supports the hypothesis of "latent" centromere(s).
在一名智力发育迟缓的女性中,发现了9号染色体的间质缺失以及一条额外的环状染色体,通过与9号染色体文库的阳性杂交,该环状染色体被认为是切除的片段。环状染色体上的功能性着丝粒以及C和DA/DAPI阳性物质可以通过着丝粒内靠近组成型异染色质的断裂来解释,这支持了“潜在”着丝粒的假说。