Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility
作者： Radhia M’kacher , Bruno Colicchio , Claire Borie , Steffen Junker , Valentine Marquet
关键词: Telomere 、 Cancer research 、 Centromere 、 Chromosome instability 、 Biology 、 Medical genetics 、 Dicentric chromosome 、 Metaphase 、 Cytogenetics 、 Cancer
摘要: Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and poor clinical outcome. Here, we present Telomere Centromere staining followed by M-FISH (TC+M-FISH) for improved detection dysfunction the identification dicentric in patients various genetic syndromes. Significant length shortening significantly higher frequencies loss deletion were found peripheral lymphocytes syndromes relative similar age-matched healthy donors. We assessed our technique against conventional cytogenetics subjecting metaphase preparations both approaches. identified 28/50 21/44 syndrome using approach, but only 7/50 12/44, respectively, standard cytogenetics. ascribe this discrepancy unique configuration chromosomes. observed (p < 10−4). TC+M-FISH analysis superior classical Our approach relatively simple useful tool documenting instability potential become additional diagnostic medical genetics clinic.
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