Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints:
J Lespinasse1, M O Réthoré, M O North
1Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France. james.lespinasse@ch-chambery.rss.fr
Abstract:
Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management. One case was ascertained after chromosome analysis performed because of psychiatric manifestations; this was an isolated finding. We also outline the molecular cytogenetic techniques, which were essential in confirming and precisely delineating the BCCRs identified in these patients. In addition the various aspects of genetic counseling for this type of chromosomal rearrangement, highlighting the details particular to each individual case are discussed. We discuss the classification for this type of chromosomal mutation.
Related Concept Videos
Fixing Double-strand Breaks
Fixing Double-strand Breaks
Karyotyping
Karyotyping
Gene Conversion
Chromosome Duplication
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...


