Array CGH in patients with developmental delay or intellectual disability: Are there phenotypic clues to pathogenic copy number variants?

Clinical Genetics

Volumn 83, Issue 1, 2013, Pages 53-65

  Shoukier, M ^a   Klein, N ^a   Auber, B ^a,b   Wickert, J ^a   Schroder J ^a   Zoll, B ^a   Burfeind, P ^a   Bartels, I ^a   Alsat, Ea ^a   Lingen, M ^a   Grzmil, P ^a,c   Schulze, S ^a   Keyser, J ^a   Weise, D ^a   Borchers, M ^a   Hobbiebrunken, E ^a   Robl M ^a   Gartner J ^a   Brockmann, K ^a   Zirn, B ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MVZ genteQ   (Germany)

^c JAGIELLONIAN UNIVERSITY   (Poland)

Author keywords

Array comparative genomic hybridization; Copy number variants; Developmental delay; Intellectual disability; Microdeletion and microduplication syndromes

Indexed keywords

ADOLESCENT; ADULT; ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; CHILD; CHILDHOOD DISEASE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; FEMALE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SHORT STATURE;

ADOLESCENT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FAILURE TO THRIVE; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 84871240499     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01850.x     Document Type: Article

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