Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

European Journal of Medical Genetics

Volumn 53, Issue 4, 2010, Pages 179-185

  Caliebe, Almuth ^a   Kroes, Hester Y ^b   van der Smagt, Jasper J ^b   Martin Subero, José I ^a   Tönnies, Holger ^a   van 't Slot, Ruben ^b   Nievelstein, Rutger A J ^b   Muhle, Hiltrud ^a   Stephani, Ulrich ^a   Alfke, Karsten ^a   Stefanova, Irina ^c   Hellenbroich, Yorck ^c   Gillessen Kaesbach, Gabriele ^c   Hochstenbach, Ron ^b   Siebert, Reiner ^a   Poot, Martin ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Corpus callosum hypo or agenesis; Dandy Walker complex; Developmental delay; FISH; HNRPU; Microcephaly; Oligonucleotide array CGH; SNP array; ZNF124

Indexed keywords

OLIGONUCLEOTIDE; BIOLOGICAL MARKER; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U;

ANEUPLOIDY; ARTICLE; BRAIN ATROPHY; BRAIN VENTRICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHROMOSOME 4; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HYDROCEPHALUS; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FACE DYSMORPHIA; FEMALE; GENE; GENE DOSAGE; HEMIZYGOSITY; HIPPOCAMPUS; HNRPU GENE; HUMAN; HYPOSPADIAS; INTERSTITIAL CHROMOSOME DELETION; KIDNEY AGENESIS; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; TELECANTHUS; ULTRASOUND; CHROMOSOME 1; CHROMOSOME DELETION; CORPUS CALLOSUM; DEVELOPMENTAL LANGUAGE DISORDER; GENE EXPRESSION PROFILING; GENETICS; INFANT; METABOLISM; PATHOLOGY; PROGNOSIS;

BIOLOGICAL MARKERS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CORPUS CALLOSUM; FEMALE; GENE EXPRESSION PROFILING; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN U; HUMANS; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; SEIZURES; AGENESIS OF CORPUS CALLOSUM;

EID: 77954387335     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.04.001     Document Type: Article

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