Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 77-87

  Bijlsma, E K ^a   Gijsbers, A C J ^a   Schuurs Hoeijmakers, J H M ^a   van Haeringen, A ^a   Fransen van de Putte, D E ^a   Anderlid, B M ^b   Lundin, J ^b   Lapunzina, P ^c,d   Perez Jurado L A ^d,e   Delle Chiaie, B ^f   Loeys, B ^f   Menten, B ^f   Oostra, A ^f   Verhelst, H ^f   Amor, D J ^g,h   Bruno, D L ^g,h   van Essen, A J ⁱ   Hordijk, R ⁱ   Sikkema Raddatz, B ⁱ   Verbruggen, K T ^j   Jongmans, M C J ^k   Pfundt, R ^k   Reeser, H M ^l   Breuning, M H ^a   Ruivenkamp, C A L ^a   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e UNIVERSITAT POMPEU FABRA   (Spain)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j UNIVERSITY OF GRONINGEN   (Netherlands)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l HAGA HOSPITAL   (Netherlands)

more..

Author keywords

Chromosome 16p11.2; Microdeletion syndrome; Variable phenotype

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME 16P; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME VARIANT; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACIES; FEMALE; GENE IDENTIFICATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; INFANT; LEARNING; MALE; MENTAL DEFICIENCY; OBESITY; PHENOTYPE; PRESCHOOL CHILD; RECURRENT DISEASE; SCHOOL CHILD; SPEECH DISORDER; STRUCTURAL HOMOLOGY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HUMANS; INFANT; LEARNING DISORDERS; MALE; MENTAL RETARDATION; SPEECH DISORDERS; YOUNG ADULT;

EID: 67349083547     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.006     Document Type: Article

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