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Article

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

American journal of human genetics - 1 Apr 2008

Baptista Julia, Mercer Catherine, Prigmore Elena, Gribble Susan M, Carter Nigel P, Maloney Viv, Thomas N Simon, Jacobs Patricia A, Crolla John A

Abstract excerpt

We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers of balanced translocations. Our study assesses the differences between balanced translocations in normal carriers and those in abnormal carriers, focusing on the presence of genomic imbalances at the breakpoints or elsewhere in the genome, presence of cryptic chromosome rearrangements, and gene disruption. Our hypothesis is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18371933
DOI: 10.1016/j.ajhg.2008.02.012
PMCID: PMC2427237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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