Article
Subtelomeric imbalances in phenotypically normal individuals.
Human mutation - 1 Oct 2007
Balikova Irina, Menten Björn, de Ravel Thomy, Le Caignec Cédric, Thienpont Bernard, Urbina Montse, Doco-Fenzy Martine, de Rademaeker Marjan, Mortier Geert, Kooy Frank, van den Ende Janneke, Devriendt Koen, Fryns Jean-Pierre, Speleman Frank, Vermeesch Joris Robert
Abstract excerpt
Subtelomeric imbalances are identified in approximately 5% of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA). Because of this high incidence, screening for subtelomeric anomalies became part of the routine genetic evaluation of MCA/MR patients. In contrast to the general view that subtelomeric imbalances cause MCA/MR, we report here 15 subtelomeric copy-number changes in...
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