De novo microduplication at 22q11.21 in a patient with VACTERL association

European Journal of Medical Genetics

Volumn 54, Issue 1, 2011, Pages 9-13

  Schramm, Charlotte ^a   Draaken, Markus ^a   Bartels, Enrika ^a   Boemers, Thomas M ^b   Aretz, Stefan ^a   Brockschmidt, Felix F ^a   Nöthen, Markus M ^a   Ludwig, Michael ^a   Reutter, Heiko ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Children's Hospital   (Germany)

Author keywords

22q11.21; Cat eye syndrome; Microduplication; MLPA; SNP array; Supernumerary der(22); VACTERL association

Indexed keywords

ANKYLOGLOSSIA; ANORECTAL MALFORMATION; ARTICLE; ASTIGMATISM; CAUDAL REGRESSION SYNDROME; CHILD; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CLUBFOOT; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; CRYPTORCHISM; DIGEORGE SYNDROME; DUODENUM ATRESIA; ESOPHAGUS ATRESIA; FALLOT TETRALOGY; FEMALE; GENE LOCUS; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRONEPHROSIS; HYPOSPADIAS; KARYOTYPING; KIDNEY AGENESIS; KIDNEY DUPLICATION; KIDNEY MALFORMATION; LIMB MALFORMATION; MALE; MECKEL DIVERTICULUM; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; SCHOOL CHILD; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPINA BIFIDA; SYRINGOMYELIA; TRACHEOESOPHAGEAL FISTULA; VACTERL ASSOCIATION; VERTEBRA MALFORMATION; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANAL CANAL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; ESOPHAGUS; FEMALE; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; KARYOTYPING; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; SPINE; TRACHEA;

FISTULA;

EID: 79951946271     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.09.001     Document Type: Article

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