Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male.
The occurrence of more than two small accessory chromosomes (SACs) in a single individual is extremely rare. Here, we characterize six SACs found in the cells of two different tissues of a moderately mentally retarded male. Microdissection combined with regular FISH demonstrates that the SACs are ring chromosomes derived from the centromeres of different chromosomes. The SACs are often associated with the centromeres of other chromosomes. Immunofluorescence with an anti-CENP-C antibody demonstrates that the SACs contain an active centromere. A possible mechanism by which the SACs originated and their clinical relevance are discussed.
Vermeesch
J R
JR
Center for Human Genetics, Campus Gasthuisberg, University of Leuven, Belgium.
Duhamel
H
H
Petit
P
P
Falzetti
D
D
Fryns
J P
JP
Marynen
P
P
D002503:Centromere; D002881:Chromosomes, Human, Pair 12; D005455:Fluorescent Antibody Technique; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012303:Ring Chromosomes