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
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.