Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 218-223

  Ballarati, Lucia ^a   Recalcati, Maria Paola ^a   Bedeschi, Maria Francesca ^b   Lalatta, Faustina ^b   Valtorta, Chiara ^a   Bellini, Melissa ^c   Finelli, Palma ^a,c   Larizza, Lidia ^a,c   Giardino, Daniela ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b Fond Osp Maggiore Policl   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Array CGH; CNTNAP5; Complex chromosomal rearrangement (CCR); Cryptic imbalances; Mowat Wilson syndrome (MWS)

Indexed keywords

NEUREXIN;

ADULT; ANIMAL TISSUE; ARTICLE; AUTISM; BRACHYCEPHALY; CASE REPORT; CHROMOSOME 1; CHROMOSOME 15; CHROMOSOME 2; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME INSERTION; CHROMOSOME REARRANGEMENT; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER; CYTOGENETICS; DISORIENTATION; ECHOLALIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HUMAN; HYPERTELORISM; INFANT; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MOUSE; MOWAT WILSON SYNDROME; NEUROLOGIC EXAMINATION; NONHUMAN; ORTHOLOGY; PHENOTYPE; PROGNATHIA; PSYCHIATRY; RECIPROCAL CHROMOSOME TRANSLOCATION; ZEB2 GENE;

ADULT; BASE SEQUENCE; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; DNA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGUAGE DISORDERS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE DELETION; TRANSLOCATION, GENETIC;

EID: 67649945780     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.02.004     Document Type: Article

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