Search for dissertations about: "6q duplication"

Found 1 swedish dissertation containing the words 6q duplication.

  1. 1. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; [2013]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

    Abstract : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. READ MORE