Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology

Journal of Intellectual Disability Research

Volumn 52, Issue 1, 2008, Pages 59-67

  Peppink, Daniélle ^a,b   Douma kloppenburg, D D ^a,b   De Rooij askes, E S P ^a,b   Van Zoest, I M ^a,c   Evenhuis, H M ^a,d   Gille, J J P ^d   Van Hagen, J M ^d  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b 's Heerenloo Midden Nederland ^*  (Netherlands)

^c ASVZ   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Aetiology; Buccal smear; Feasibility; Intellectual disability; Multiplex ligation dependent probe amplification; Prevalence

Indexed keywords

DNA;

ACROCEPHALOSYNDACTYLY; ADULT; ALAGILLE SYNDROME; ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA DETERMINATION; FEASIBILITY STUDY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MILLER DIEKER SYNDROME; MOSAICISM; NETHERLANDS; NON INVASIVE MEASUREMENT; ORAL BIOPSY; OUTCOME ASSESSMENT; POPULATION RESEARCH; PRADER WILLI SYNDROME; PREVALENCE; RANDOM SAMPLE; SMITH MAGENIS SYNDROME; SOTOS SYNDROME; SUPERNUMERARY CHROMOSOME; WILLIAMS BEUREN SYNDROME;

ADULT; CHROMOSOME DELETION; DNA; FEASIBILITY STUDIES; FEMALE; HUMANS; MALE; MASS SCREENING; MENTAL RETARDATION; MIDDLE AGED; MOUTH MUCOSA; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 37449014859     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2007.00980.x     Document Type: Article

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