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Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

Original publication




Journal article


Nat Genet

Publication Date





999 - 1001


Adolescent, Adult, Brain, Child, Preschool, Chromosome Deletion, Chromosome Inversion, Chromosomes, Human, Pair 17, Cohort Studies, Face, Female, Gene Dosage, Gene Frequency, Haplotypes, Humans, Intellectual Disability, Magnetic Resonance Imaging, Male, Muscle Hypotonia, Physical Chromosome Mapping, Polymorphism, Genetic, Prevalence, Radiography, Receptors, Corticotropin-Releasing Hormone, Syndrome, tau Proteins