Document Detail

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.
MedLine Citation:
PMID:  15726417     Owner:  NLM     Status:  MEDLINE    
Balanced complex chromosome rearrangements (CCR) are extremely rare in humans. They are usually ascertained either by abnormal phenotype or reproductive failure in carriers. These abnormalities are attributed to disruption of genes at the breakpoints, position effect or cryptic imbalances in the genome. However, little is known about possible imbalances at the junction points. We report here a patient with a CCR involving three chromosomes (2;10;11) and eight breakpoints. The patient presented with behavioural problems as the sole phenotypic abnormality. The rearrangement, which is apparently balanced in G-banding and multicolour FISH, was shown by genomic array analysis to include a deletion of 0.15-1.5 Mb associated with one of the breakpoints. To explain the formation of this rearrangement through the smallest possible number of breakage-and-reunion events, one has to assume that the breaks have not occurred simultaneously, but in a temporal order within the span of a single cell division. We demonstrate that array comparative genomic hybridisation (CGH) is a useful complementary tool to cytogenetic analysis for detecting and mapping cryptic imbalances associated with chromosome rearrangement.
Carla Rosenberg; Jeroen Knijnenburg; Maria de Lourdes Chauffaille; Decio Brunoni; Ana Lucia Catelani; Willem Sloos; Károly Szuhai; Hans J Tanke
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-02-22
Journal Detail:
Title:  Human genetics     Volume:  116     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-04-04     Completed Date:  2005-08-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  390-4     Citation Subset:  IM    
Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands.
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MeSH Terms
Child Behavior Disorders / genetics
Child, Preschool
Chromosome Aberrations*
Chromosome Banding
Chromosome Breakage
Chromosome Mapping
In Situ Hybridization, Fluorescence
Language Development Disorders / genetics
Translocation, Genetic

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