De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2571-2576

  Cirillo, Emilia ^a   Romano, Rosa ^a   Romano, Alfonso ^a   Giardino, Giuliana ^a   Durandy, Anne ^b   Nitsch, Lucio ^a   Genesio, Rita ^a   Di Gregorio, Eleonora ^c   Cavalieri, Simona ^c   Abate, Giovanna ^a   Del Vecchio, Luigi ^a   Brusco, Alfredo ^c   Pignata, Claudio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b INSERM   (France)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

13q deletion; Array CGH; Cerebellar hypoplasia; Hypotonia; Psychomotor retardation; Radiosensitivity; Rare genetic syndromes

Indexed keywords

ANTIINFLAMMATORY AGENT; BENCE JONES PROTEIN; IMMUNOGLOBULIN KAPPA CHAIN; IMMUNOGLOBULIN LAMBDA CHAIN; IMMUNOGLOBULIN M; STEROID;

ADOLESCENT; ARTICLE; ATAXIA TELANGIECTASIA; BRAIN VENTRICLE DILATATION; BRCA2 GENE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CISTERNA MAGNA; CLINODACTYLY; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DYSMETRIA; FACE DYSMORPHIA; FOLLOW UP; FOOT PAIN; FOOT RADIOGRAPHY; FRACTURE; GENE; GENE REARRANGEMENT; HEARING LOSS; HUMAN; HYPOTELORISM; IMMUNE DEFICIENCY; IMMUNOPHENOTYPING; KARYOTYPING; MALE; MENTAL DEFICIENCY; METATARSAL BONE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OBSESSION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SCOLIOSIS; SPEECH DISORDER; STEREOTYPY; TELANGIECTASIA; UPPER RESPIRATORY TRACT INFECTION; WHEEZING;

ADOLESCENT; ATAXIA; CEREBELLUM; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; GENES, BRCA2; HUMANS; IMMUNOGLOBULIN M; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE;

ATAXIA TELANGIECTASIA;

EID: 84866490438     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35556     Document Type: Article

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