Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages 438-444

  Palumbo, Orazio ^a   Palumbo, Pietro ^a   Delvecchio, Maurizio ^a   Palladino, Teresa ^a   Stallone, Raffaella ^a   Crisetti, Matteo ^a   Zelante, Leopoldo ^a   Carella, Massimo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

12q24.31 microdeletion; Chromosomal microarrays analysis; Genotype phenotype correlation

Indexed keywords

HISTONE METHYLTRANSFERASE; MICRORNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12Q; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; MICROANALYSIS; MITRAL VALVE REGURGITATION; PHYSICAL EXAMINATION; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; STEREOTYPY; TONIC CLONIC SEIZURE; CHROMOSOME 12; CHROMOSOME DELETION; CHROMOSOME MAP; CONGENITAL MALFORMATION; FACIAL BONE; FACIES; GENETICS; INTELLECTUAL DISABILITY; PHENOTYPE; PRESCHOOL CHILD; SEIZURES;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FACIAL BONES; FACIES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; PHENOTYPE; SEIZURES; STEREOTYPED BEHAVIOR;

EID: 84921385996     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36872     Document Type: Article

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