Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.
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.
Lespinasse
J
J
Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France. james.lespinasse@ch-chambery.rss.fr
Réthoré
M O
MO
North
M O
MO
Bovier-Lapierre
M
M
Lundsteen
C
C
Fert-Ferrer
S
S
Bugge
M
M
Kirchoff
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D025063:Chromosome Disorders / Q000235:genetics*; D020223:Chromosome Painting; D002877:Chromosomes, Human / Q000235:genetics / Q000648:ultrastructure*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008957:Models, Genetic; D016254:Mutagenesis, Insertional; D009693:Nucleic Acid Hybridization; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic