Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 108-115

  Doornbos, Marianne ^a,c   Sikkema Raddatz, Birgit ^b   Ruijvenkamp, Claudia A L ^d   Dijkhuizen, Trijnie ^b   Bijlsma, Emilia K ^d   Gijsbers, Antoinet C J ^d   Hilhorst Hofstee, Yvonne ^d   Hordijk, Roel ^b   Verbruggen, Krijn T ^a   Breuning, Martijn ^d  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b Mieke)   (Netherlands)

^c ALBERT SCHWEITZER HOSPITAL   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CYFIP1; Microdeletion 15q11.2; NIPA1; NIPA2; TUBGCP5

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; AUTOSOMAL INHERITANCE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 15Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MICRODELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYFIP1 GENE; FACE DYSMORPHIA; FEMALE; GENE; HAPLOTYPE; HAPPY PUPPET SYNDROME; HUMAN; INHERITANCE; MALE; MOTOR DYSFUNCTION; NIPA1 GENE; NIPA2 GENE; OBSESSIVE COMPULSIVE DISORDER; PARENT; PENETRANCE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; SCHOOL CHILD; SPEECH DISORDER; TUBGCP5 GENE;

ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; FAMILY HEALTH; HUMANS; MALE; MENTAL DISORDERS; PRADER-WILLI SYNDROME; SPEECH DISORDERS; SYNDROME;

EID: 67349130116     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.010     Document Type: Article

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