The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluoresence in situ hybridization to array comparative genomic hybridization

Abstract

Submicroscopic telomere imbalances are a significant cause of mental retardation with or without other phenotypic abnormalities. We previously developed a set of unique telomere clones that identify imbalances in 3% to 5% of children with unexplained mental retardation and a normal karyotype. This targeted screening approach, however, does not provide… (More)
DOI: 10.1097/GIM.0b013e318149e1fc

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