Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

European Journal of Human Genetics

Volumn 16, Issue 6, 2008, Pages 680-687

  Schneider, Anouck ^a   Benzacken, Brigitte ^b   Guichet, Agnès ^c   Verloes, Alain ^d   Bonneau, Dominique ^c   Collot, Nathalie ^e   Dastot Le Moal, Florence ^e   Goossens, Michel ^e   Taine, Laurence ^f   Landais, Emilie ^a   Gaillard, Dominique ^a   Doco Fenzy, Martine ^a  

^a REIMS UNIVERSITY HOSPITAL   (France)

^b HÔPITAL JEAN VERDIER   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CORPUS CALLOSUM; CORPUS CALLOSUM HYPOPLASIA; DEVELOPMENTAL DISORDER; DISOMY; DISOMY 14; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC SCREENING; GENOTYPE; HUMAN; INFANT; MALE; MICROGNATHIA; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRENATAL SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; TELOMERE;

BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CORPUS CALLOSUM; DNA PRIMERS; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; PHENOTYPE; TELOMERE;

EID: 44449128610     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201977     Document Type: Article

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