A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 257-264

  Yu, H E ^a,e   Hawash, K ^a,b   Picker, J ^a,b   Stoler, J ^a,b   Urion, D ^a,b   Wu, B L ^a,b,c   Shen, Y ^a,b,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c FUDAN UNIVERSITY   (China)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e GEISINGER HEALTH SYSTEM   (United States)

Author keywords

2q13 autism spectrum disorders; Developmental delay; DNA copy number variant; Dysmorphism

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CHILD; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE DUPLICATION; GENOMIC INSTABILITY; HUMAN; HYPERTELORISM; JOUBERT SYNDROME; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; TOOTH MALFORMATION;

ALLELIC IMBALANCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 2; CONGENITAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INFANT; MALE; RISK FACTORS; SEQUENCE DELETION;

EID: 84856428775     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01637.x     Document Type: Article

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