Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male

Citation
Jr. Vermeesch et al., Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male, HUM GENET, 105(6), 1999, pp. 611-618
Citations number
35
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
105
Issue
6
Year of publication
1999
Pages
611 - 618
Database
ISI
SICI code
0340-6717(199912)105:6<611:MSAMCF>2.0.ZU;2-M
Abstract
The occurrence of more than two small accessory chromosomes (SACs) in a sin gle individual is extremely rare. Here, we characterize six SACs found in t he cells of two different tissues of a moderately mentally retarded male. M icrodissection combined with regular FISH demonstrates that the SACs are ri ng chromosomes derived from the centromeres of different chromosomes. The S ACs are often associated with the centromeres of other chromosomes. Immunof luorescence with an anti-CENP-C antibody demonstrates that the SACs contain an active centromere. A possible mechanism by which the SACs originated an d their clinical relevance are discussed.