Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.
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.
Rosenberg
Carla
C
Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands. Carlarosenberg45@aol.com
Knijnenburg
Jeroen
J
Chauffaille
Maria de Lourdes
Mde L
Brunoni
Decio
D
Catelani
Ana Lucia
AL
Sloos
Willem
W
Szuhai
Károly
K
Tanke
Hans J
HJ
D002653:Child Behavior Disorders / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic
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