A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1315-1322

  Quintela, Ines ^a   Barros, Francisco ^a   Lago Leston, Ramon ^a   Castro Gago, Manuel ^b   Carracedo, Angel ^a,c   Eiris, Jesus ^b  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b Instituto de Salud Carlos III   (Spain)

^c KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

Author keywords

12p12.1 deletion; 16p13.11 p12.3 duplication; Disruptive behavior; Dysmorphism; Global developmental delay; Intellectual disability; Obsessive behavior; SOX5

Indexed keywords

TRANSCRIPTION FACTOR SOX5; SOX5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISRUPTIVE BEHAVIOR; GENE DELETION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HOMOLOGOUS RECOMBINATION; HUMAN; HYPERMETROPIA; INTELLIGENCE QUOTIENT; MALE; MICROARRAY ANALYSIS; OBSESSION; OLIGOHYDRAMNIOS; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SOX5 GENE; STRABISMUS; BIOLOGICAL MODEL; CHROMOSOME 16; DEVELOPMENTAL LANGUAGE DISORDER; FACIES; GENETICS; GENOTYPE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; DEVELOPMENTAL DISABILITIES; FACIES; GENE DELETION; GENOTYPE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; MODELS, GENETIC; OBSESSIVE BEHAVIOR; PEDIGREE; PHENOTYPE; SOXD TRANSCRIPTION FACTORS;

EID: 84929960251     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36909     Document Type: Article

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