Abstract
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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Brain / abnormalities
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Brain / diagnostic imaging
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Child, Preschool
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Chromosome Deletion*
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Chromosome Inversion*
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Chromosomes, Human, Pair 17*
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Cohort Studies
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Face / pathology
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Female
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Gene Dosage
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Gene Frequency
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Haplotypes
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Humans
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Intellectual Disability / epidemiology
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Magnetic Resonance Imaging
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Male
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Muscle Hypotonia / genetics
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Muscle Hypotonia / physiopathology
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Physical Chromosome Mapping
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Polymorphism, Genetic*
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Prevalence
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Radiography
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Receptors, Corticotropin-Releasing Hormone / genetics
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Syndrome
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tau Proteins / genetics
Substances
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MAPT protein, human
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Receptors, Corticotropin-Releasing Hormone
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tau Proteins
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CRF receptor type 1