Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

Molecular Cytogenetics

Volumn 7, Issue 1, 2014, Pages

  Kashevarova, Anna A ^a   Nazarenko, Lyudmila P ^a,b   Schultz Pedersen, Soren ^c   Skryabin, Nikolay A ^a,d   Salyukova, Olga A ^a,b   Chechetkina, Nataliya N ^a   Tolmacheva, Ekaterina N ^a   Rudko, Aleksey A ^a   Magini, Pamela ^e   Graziano, Claudio ^f   Romeo, Giovanni ^e   Joss, Shelagh ^f   Tümer, Zeynep ^g   Lebedev, Igor N ^a,b  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

^b SIBERIAN STATE MEDICAL UNIVERSITY   (Russian Federation)

^c Private Pediatric Clinics Bornelaegen Aarhus   (Denmark)

^d TOMSK STATE UNIVERSITY   (Russian Federation)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^g University of Copenhagen   (Denmark)

Author keywords

3p26.3 microdeletion; 3p26.3 microduplication; CNTN6; Intellectual disability; Reciprocal microdeletions microduplications

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; AXON CONNECTION; CASE REPORT; CHILD; CHL1 GENE; CHROMOSOME 3P; CHROMOSOME ANALYSIS; CHROMOSOME MICROARRAY; CLINICAL EXAMINATION; CLINICAL FEATURE; CNTN4 GENE; CNTN6 GENE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MAPPING; GENE MICRODELETION; GENE MICRODUPLICATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LANGUAGE DELAY; MALE; MICROCEPHALY; MOTOR DYSFUNCTION; NERVE CHARACTERISTICS AND FUNCTIONS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SPEECH DELAY;

EID: 84938588820     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-014-0097-0     Document Type: Article

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