Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1680-1685

  Zechi Ceide, Roseli Maria ^a   Rodrigues, Melina Guerreiro ^a   Jehee, Fernanda Sarquis ^a   Kokitsu Nakata, Nancy Mizue ^a   Passos Bueno, Maria Rita ^a   Guion Almeida, Maria Leine ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Array CGH; CISH gene; DOCK3 gene; FERD3L gene; Hyper IgE syndrome; Saethre Chotzen syndrome; TWIST1 gene microdeletion

Indexed keywords

IMMUNOGLOBULIN E;

ACROCEPHALOSYNDACTYLY; ALOPECIA; ARTICLE; BEHAVIOR DISORDER; BRACHYCEPHALY; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 3; CHROMOSOME 7; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CLINODACTYLY; CORONAL SYNOSTOSIS; FEMALE; GENE; GENE DELETION; GENOTYPE; HAIR LOSS; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; LEARNING DISORDER; MICROBRACHYCEPHALY; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RECURRENT INFECTION; SCALP INFECTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN INFECTION; SYNOSTOSIS; TWIST1 GENE;

ACROCEPHALOSYNDACTYLIA; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; HUMANS; INFANT; JOB'S SYNDROME; LEARNING DISORDERS; PHENOTYPE;

EID: 84862656610     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35367     Document Type: Article

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