Subtelomeric rearrangements are important cause of multiple congenital anomalies/mental retardation syndromes. The population incidence of these aberrations is still unknown. However, in isolated Cases, advanced molecular cytogenetic methods (e.g. array CGH, subtelomeric FISH) can help reveal submicroscopic unbalances of chromosomal distal ends that can not be detected by conventional cytogenetic methods, may lead to exact genetic diagnosis and help counseling.
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