A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 190-193

  Terrone, Gaetano ^a   Cappuccio, Gerarda ^a   Genesio, Rita ^a   Esposito, Annalisa ^a   Fiorentino, Valeria ^a   Riccitelli, Marina ^a   Nitsch, Lucio ^a   Brunetti Pierri, Nicola ^a   Del Giudice, Ennio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

14q11.2 microdeletion syndrome; CHD8 gene; MMP14 gene; Wolf Hirschhorn syndrome

Indexed keywords

MATRIX METALLOPROTEINASE 14;

ADULT; ARTICLE; AUTISM; AUTISM DIAGNOSTIC INTERVIEW REVISED; AUTISM DIAGNOSTIC OBSERVATION SCHEDULE; BODY MASS; CASE REPORT; CHD8 GENE; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q11.2; CHROMOSOME IDENTIFICATION; CLINICAL EVALUATION; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; GENE; GENE IDENTIFICATION; HALLUX VALGUS; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPOPLASIA; INTELLIGENCE QUOTIENT; KYPHOSIS; MAGNETIC RESONANCE ANGIOGRAPHY; MMP14 GENE; MUSCLE HYPOTONIA; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; PTOSIS; RETROGNATHIA; SCOLIOSIS; SPINE RADIOGRAPHY; VALGUS KNEE; WECHSLER INTELLIGENCE SCALE; WOLF HIRSCHHORN SYNDROME; YOUNG ADULT; AUTISTIC DISORDER; CHROMOSOME 4; CRANIOFACIAL ABNORMALITIES; DIFFERENTIAL DIAGNOSIS; FACIES; GENETICS; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; WOLF-HIRSCHHORN SYNDROME;

AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; FACIES; FEMALE; HUMANS; INFANT, NEWBORN; OBESITY; PHENOTYPE; WOLF-HIRSCHHORN SYNDROME; YOUNG ADULT;

EID: 84890787334     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36200     Document Type: Article

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