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

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 ret...

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Détails bibliographiques
Auteurs principaux: Sismani, Carolina, Kitsiou-Tzeli, Sofia, Ioannides, Marios, Christodoulou, Christodoulos, Anastasiadou, Violetta, Stylianidou, Goula, Papadopoulou, Eleftheria, Kanavakis, Emanuel, Kosmaidou-Aravidou, Zoe, Patsalis, Philippos C
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2008
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2516517/
https://ncbi.nlm.nih.gov/pubmed/18644119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-15
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