Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype

American Journal of Medical Genetics

Volumn 118 A, Issue 2, 2003, Pages 122-126

  Rinaldi, R ^a   De Bernardo, C ^a   Assumma, M ^a   Grammatico, B ^a   Buffone, E ^a   Poscente, M ^b   Grammatico, P ^a,b  

^a SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

4q duplication; Congenital heart defects thumb anomalies; dup(4q); FISH; Urogenital abnormalities

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 4Q; CHROMOSOME DUPLICATION; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYPOPLASIA; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; THUMB MALFORMATION; UROGENITAL TRACT MALFORMATION; YEAST ARTIFICIAL CHROMOSOME; CHROMOSOME 14; CHROMOSOME 4; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CONGENITAL HEART MALFORMATION; GENE DUPLICATION; GENE TRANSLOCATION; GENETICS; INFANT; KARYOTYPING; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PSYCHOMOTOR DISORDER; REVIEW; THUMB;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 4; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; PHENOTYPE; PSYCHOMOTOR DISORDERS; THUMB; TRANSLOCATION, GENETIC; UROGENITAL ABNORMALITIES;

EID: 0037487191     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10093     Document Type: Article

References (15)

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