Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype

European Journal of Medical Genetics

Volumn 49, Issue 3, 2006, Pages 215-223

  Piovani, Giovanna ^a   Borsani, Giuseppe ^a   Bertini, Valeria ^a   Kalscheuer, Vera M ^b   Viertel, Petra ^b   Bellotti, Daniela ^a   Valseriati, Daniela ^c   Barlati, Sergio ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Div di Neuropsichiatria Infantile   (Italy)

Author keywords

Bioinformatic analysis; Chromosome 4; Deletions; FISH analysis; Inversion

Indexed keywords

ADOLESCENT; ARTICLE; BIOINFORMATICS; CASE REPORT; CHROMOSOME 4P; CHROMOSOME 4Q; CHROMOSOME ARM; CHROMOSOME IDENTIFICATION; CHROMOSOME REARRANGEMENT; DISEASE COURSE; FATHER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENOME; HEMIZYGOTE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XY; MALE; MICROSATELLITE MARKER; MOLECULAR CLONING; PARENT; PATHOGENESIS; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; PSYCHOMOTOR RETARDATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPUTATIONAL BIOLOGY; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; PHENOTYPE; PSYCHOMOTOR DISORDERS;

EID: 33744506819     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.07.004     Document Type: Article

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