SNP arrays in beckwith-wiedemann syndrome: An improved diagnostic strategy

European Journal of Medical Genetics

Volumn 56, Issue 10, 2013, Pages 546-550

  Keren, Boris ^a,b,c   Chantot Bastaraud, Sandra ^a,d   Brioude, Frédéric ^a,b,e   Mach, Corinne ^a   Fonteneau, Eric ^a   Azzi, Salah ^a,e   Depienne, Christel ^a,b,c   Brice, Alexis ^a,b,c   Netchine, Irène ^a,b,e   Le Bouc, Yves ^a,b,e   Siffroi, Jean Pierre ^a,b,d   Rossignol, Sylvie ^a,b,e  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d INSERM   (France)

^e CENTRE DE RECHERCHE SAINT ANTOINE   (France)

Author keywords

11p15 paternal disomy; Beckwith Wiedemann syndrome; Mosaicism; SNP array

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DNA METHYLATION; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOSITY LOSS; HUMAN; KARYOTYPE; LABORATORY DEVICE; MONOSOMY; MOSAICISM; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY; UNIPARENTAL DISOMY;

11P15 PATERNAL DISOMY; BECKWITH-WIEDEMANN SYNDROME; MOSAICISM; SNP ARRAY;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME BREAKPOINTS; DNA METHYLATION; GENOMIC IMPRINTING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRISOMY; UNIPARENTAL DISOMY;

EID: 84885385027     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.06.005     Document Type: Article

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