NDLI: Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

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Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

Content Provider	Springer Nature Link
Author	Rosenberg, Carla Knijnenburg, Jeroen Chauffaille, Maria de Lourdes Bruni, Decio Catelani, Ana Lucia Sloos, Willem Szuhai, Károly Tanke, Hans J.
Copyright Year	2005
Abstract	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.
Starting Page	390
Ending Page	394
Page Count	5
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	116
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-02-22
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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