Vertebrate telomeres consist of tandem repeats of the TTAGGG sequence that cap the ends of chromosomes, protecting them from degradation and fusion. Extensive evidence has shown that telomere shortening and erosion lead lo chromo¬some end-to-end fusions and genomic instability, causing mental retardation and/or malformation syndromes. So far, over 19,000 patients with mental retardation have been tested and reported of whom -2.5% appeared to have a subtelomeric rearrange¬ment [Ravnan et al., 2006; Ballif et al., 2007; Ledbetter and Martin, 2007]. Since the identification of sub¬microscopic subtelomeric rearrangements as a major cause of mental retardation [Flint et al., 1995], testing for subtelomeric abnormalities among patients with mental retardation has become an important diag¬nostic tool. Although widespread screening among patients with mental retardation might be desirable, the current cost of testing is considered too expensive to allow unselected testing. Therefore clinical preselection is important. So far, selection for subtelomere testing has often been based on the checklist proposed by De Vries et al. [20011. (F, Family history of mental retardation; 2, prenatal onset growth retardation; 3, postnatal growth abnormal¬ities; 4, >2 facial dysmorphic features; 5, one or more non-facial dysmorphic features and/or congenital abnormality).Here we report on a patient with a 10 q26-10gter deletion. Our patient is a male, the first-born child of healthy non-consanguineous parents, with no family history of mental retardation or birth defects. He was born by caesarean delivery at 38 weeks of gestation.
|Numero di pagine||4|
|Rivista||AMERICAN JOURNAL OF MEDICAL GENETICS. PART A|
|Stato di pubblicazione||Published - 2008|
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