A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 49-55

  Bartsch, Oliver ^a   Schindler, Detlev ^b   Beyer, Vera ^a   Gesk, Stefan ^c   Van't Slot, Ruben ^d   Feddersen, Isa ^e   Buijs, Arjan ^d   Jaspers, Nicolaas G J ^f   Siebert, Reiner ^c   Haaf, Thomas ^b   Poot, Martin ^d  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e Klinikum Mutterhaus der Borromaerinnen   (Germany)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Ataxia telangiectasia; Duplication 19q12; Inversion inv(14)(q11q32); Mental retardation; Mosaic; Muscular weakness; Oligoarthritis; Pleckstrin homology domain containing gene PLEKHF1; Speech delay; Ubiquinol cytochrome c reductase gene UQCRFS1

Indexed keywords

ALPHA FETOPROTEIN; ATM PROTEIN; CYCLIN E; CYCLIN E1 ISOFORM 2 PROTEIN; DNA; IMMUNOGLOBULIN; MEMBRANE PROTEIN; NONSTEROID ANTIINFLAMMATORY AGENT; PLECKSTRIN; PROTEIN PLEKHF1; PROTEIN UQCRFS1; RIBONUCLEASE P; TRIAMCINOLONE HEXACETONIDE; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; V SET AND TRANSMEMBRANE DOMAIN CONTAINING GENE 2B; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN ZNF536;

ABDOMEN; ADULT; ARM; ARTHRITIS; ARTICLE; ATAXIA; ATAXIA TELANGIECTASIA; BLOOD ANALYSIS; BLOOD SAMPLING; BODY POSTURE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME 19Q12 DELETION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; DISEASE SEVERITY; DNA DAMAGE; DYSARTHRIA; ELECTROENCEPHALOGRAM; FEMALE; FLOW CYTOMETRY; FOOT; GAIT DISORDER; GENE EXPRESSION; GENE REARRANGEMENT; GENETIC ANALYSIS; HAND; HISTOPATHOLOGY; HUMAN; HYPERSALIVATION; LYMPHOCYTE; MATERNAL BLOOD; MENTAL RETARDATION MALFORMATION SYNDROME; METAPHASE; MICROCEPHALY; MOSAICISM; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE TONE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; RADIOSENSITIVITY; RESPIRATORY TRACT INFECTION; SALIVA; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

APOPTOSIS REGULATORY PROTEINS; ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 19; DNA DAMAGE; DNA-BINDING PROTEINS; FEMALE; HUMANS; LYMPHOCYTES; MENTAL DISORDERS; METAPHASE; MICROCEPHALY; PROTEIN-SERINE-THREONINE KINASES; SALIVA; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84857189911     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.08.001     Document Type: Article

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