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

J R Vermeesch; H Duhamel; P Petit; D Falzetti; J P Fryns; P Marynen

doi:10.1007/s004399900184

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

Hum Genet. 1999 Dec;105(6):611-8. doi: 10.1007/s004399900184.

Authors

J R Vermeesch¹, H Duhamel, P Petit, D Falzetti, J P Fryns, P Marynen

Affiliation

¹ Center for Human Genetics, Campus Gasthuisberg, University of Leuven, Belgium.

PMID: 10647897
DOI: 10.1007/s004399900184

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Centromere*
Chromosomes, Human, Pair 12*
Fluorescent Antibody Technique
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability / genetics*
Karyotyping
Male
Middle Aged
Polymerase Chain Reaction
Ring Chromosomes*