Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1118-1126

  Al Kateb, Hussam ^a   Khanna, Geetika ^a   Filges, Isabel ^b   Hauser, Natalie ^c   Grange, Dorothy K ^a   Shen, Joseph ^c   Smyser, Christopher D ^a   Kulkarni, Shashikant ^a   Shinawi, Marwan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

Author keywords

16p11.2 rearrangement; Deletion; Duplication; Phenotype; Scoliosis; Vertebral anomalies

Indexed keywords

ADOLESCENT; ADOLESCENT IDIOPATHIC SCOLIOSIS; ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; CHILD; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 16P11.2; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME SIZE; CLINICAL ARTICLE; CLINODACTYLY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; DYSARTHRIA; FACE MALFORMATION; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUNNEL CHEST; GENE DISRUPTION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; INFANT; LANGUAGE DELAY; LEARNING DISORDER; MACROCEPHALY; MALE; MICROARRAY ANALYSIS; MOLECULAR PATHOLOGY; MOTOR DYSFUNCTION; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK ASSESSMENT; SCHOOL CHILD; SPEECH SOUND DISORDER; SPINE RADIOGRAPHY; STRABISMUS; SYNDACTYLY; VERTEBRA MALFORMATION; YOUNG ADULT;

EID: 84898914241     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36401     Document Type: Article

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