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Article

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

21 Jul 2008

Abstract excerpt

BACKGROUND: Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six de novo and six familial, with apparently balanced translocations and mental retardation and/or congenital malformations by applying 1 Mb resolution array-CGH. In all de novo cases, only the...

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PMID: 18644119
DOI: 10.1186/1755-8166-1-15

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