The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2158-2166

  Dikow, Nicola ^a   Maas, Bianca ^a   Gaspar, Harald ^b   Kreiss Nachtsheim, Martina ^c   Engels, Hartmut ^c   Kuechler, Alma ^d   Garbes, Lutz ^e   Netzer, Christian ^e   Neuhann, Teresa M ^f   Koehler, Udo ^f   Casteels, Kristina ^g   Devriendt, Koen ^g   Janssen, Johannes W G ^a   Jauch, Anna ^a   Hinderhofer, Katrin ^a   Moog, Ute ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f Medizinisch Genetisches Zentrum (MGZ)   (Germany)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Gene dosage; Microduplication 5q35; NSD1; Partial trisomy 5q; Sotos syndrome

Indexed keywords

METHYLPHENIDATE;

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; CHILD; CHROMOSOME 5Q; CHROMOSOME BAND; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; FACIES; FEBRILE CONVULSION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; HUMAN; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPING; LANGUAGE DELAY; LEARNING DISORDER; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; NEUROIMAGING; NSD1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SOTOS SYNDROME; SPEECH DELAY; STRABISMUS;

GENE DOSAGE; MICRODUPLICATION 5Q35; NSD1; PARTIAL TRISOMY 5Q; SOTOS SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENE DOSAGE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SOTOS SYNDROME; YOUNG ADULT;

EID: 84881669003     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36046     Document Type: Article

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