2008
DOI: 10.1186/1755-8166-1-15
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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Abstract: BackgroundCarriers 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 patient was a carrier of the translocation and had abnormal phenotype. In five out of the six familial cas… Show more

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Cited by 74 publications
(78 citation statements)
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“…aCGH is already widely used for the cytogenetic analysis of prenatal and postnatal samples [104][105][106][107] as it is rapid, cost-effective and allows chromosomal regions to be screened at high resolution. Several types of aCGH platform are available for the purposes of aneuploidy screening.…”
Section: Array-based Testing Of Aneuploidymentioning
confidence: 99%
“…aCGH is already widely used for the cytogenetic analysis of prenatal and postnatal samples [104][105][106][107] as it is rapid, cost-effective and allows chromosomal regions to be screened at high resolution. Several types of aCGH platform are available for the purposes of aneuploidy screening.…”
Section: Array-based Testing Of Aneuploidymentioning
confidence: 99%
“…Interestingly, by empirical studies, ;6% of de novo apparently balanced translocations are associated with clinical abnormalities (Warburton 1991). Recently, it has been shown by molecular analyses (e.g., array comparative genomic hybridization) that up to 40% of the apparently balanced reciprocal chromosome translocations in patients with an abnormal phenotype are accompanied by a chromosome imbalance, either at the translocation breakpoints or elsewhere in the genome (Gribble et al 2005;De Gregori et al 2007;Sismani et al 2008). Little is known, however, about the mechanisms or genomic sequences involved in the formation of non-neoplastic reciprocal translocations (Abeysinghe et al 2003;Higgins et al 2008).…”
mentioning
confidence: 99%
“…The combination was also effective in regard to vascular complications, with no official thrombotic event apart from erythromelalgia in an ET patient and 1 case of minor hemorrhage in a patient also receiving clopidogrel. The latter maybe associated with a synergistic functional PLT inhibition by AG and clopidogrel [10]. Given the superiority of HU in preventing arterial events and of AG in venous thrombosis as shown in the PT-1 trial [10], a complementary effect of these drugs could be beneficial.…”
Section: Introductionmentioning
confidence: 99%