De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 361-364

  Magri, Chiara ^a   Piovani, Giovanna ^a   Pilotta, Alba ^b   Michele, Traversa ^a   Buzi, Fabio ^b   Barlati, Sergio ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

2q24.2 24.3; Deletion; Hypotonia; Joint laxity; Mental retardation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME DELETION; CYTOGENETICS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENE EXPRESSION; GENOTYPE; HUMAN; HYPOTROPHY; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEUROPSYCHIATRY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 2; FACE; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79955480651     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.12.011     Document Type: Article

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