Document Detail


Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.
MedLine Citation:
PMID:  15337478     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
J Lespinasse; M O Réthoré; M O North; M Bovier-Lapierre; C Lundsteen; S Fert-Ferrer; M Bugge; M Kirchoff
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  47     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:    2004 Jul-Sep
Date Detail:
Created Date:  2004-08-31     Completed Date:  2004-10-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  France    
Other Details:
Languages:  eng     Pagination:  315-24     Citation Subset:  IM    
Affiliation:
Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France. james.lespinasse@ch-chambery.rss.fr
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Abortion, Habitual / genetics
Adult
Autistic Disorder / genetics*
Child
Child, Preschool
Chromosome Breakage*
Chromosome Disorders / genetics*
Chromosome Painting
Chromosomes, Human / genetics,  ultrastructure*
Female
Genetic Counseling
Humans
Male
Models, Genetic
Mutagenesis, Insertional
Nucleic Acid Hybridization
Psychomotor Disorders / genetics*
Translocation, Genetic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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