Two new de novo interstitial duplications covering 2p14-p22.1: Clinical and molecular analysis

Cytogenetic and Genome Research

Volumn 139, Issue 1, 2012, Pages 52-58

  Kasnauskiene, J ^a   Cimbalistiene, L ^a   Utkus, A ^a   Ciuladaite, Z ^a   Preiksaitiene, E ^a   Peciulyte A ^a   Kucinskas V ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

Author keywords

2p14 p22.1; Array comparative genomic hybridization; Mental retardation; Tandem duplication

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GLYCOSAMINOGLYCAN;

ACANTHOSIS NIGRICANS; ADOLESCENT; AMINO ACID ANALYSIS; ANXIETY; ARTICLE; ASTHMA; BEHAVIOR DISORDER; BRONCHITIS; CASE REPORT; CHILD; CHROMATIN STRUCTURE; CHROMOSOME 2; CHROMOSOME 2P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL EVALUATION; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; DECIDUOUS TOOTH; ECHOGRAPHY; ELECTROPHORESIS; EMOTIONAL DISORDER; EPILEPSY; EYE FUNDUS; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENETIC DISORDER; HEART ATRIUM SEPTUM DEFECT; HEPATOMEGALY; HUMAN; HYPERACTIVITY; HYPERPHAGIA; HYPERTENSION; KIDNEY CONCENTRATING CAPACITY; LANGUAGE DISABILITY; MACROCEPHALY; MALE; MENARCHE; MENINGOCOCCOSIS; MENTAL DEFICIENCY; METABOLIC DISORDER; MUSCLE HYPOTONIA; PHYSICAL EXAMINATION; PNEUMONIA; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; REAL TIME POLYMERASE CHAIN REACTION; RECURRENT INFECTION; REGULATORY SEQUENCE; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; SPINE MALFORMATION; SPONTANEOUS ABORTION; VENOUS STASIS; VOMITING;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; MALE; MUSCULOSKELETAL ABNORMALITIES;

EID: 84871025724     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000342544     Document Type: Article

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