'Tandem' duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype

American Journal of Medical Genetics

Volumn 82, Issue 5, 1999, Pages 371-375

  Zollino, Marcella ^a   Wright, T J ^b   Di Stefano, C ^a   Tosolini, A ^a   Battaglia, A ^c   Altherr, M R ^b   Neri, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b LOS ALAMOS NATIONAL LABORATORY   (United States)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

Chromosome 4p; Haploinsufficieney; Microdeletion; Pitt Rogers Danks syndrome; Wolf Hirschhorn syndrome

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME DUPLICATION; CYTOGENETICS; ELECTROENCEPHALOGRAM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MULTICHANNEL RECORDER; PHENOTYPE; PRIORITY JOURNAL; TELOMERE; WOLF HIRSCHHORN SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 4; GENE DELETION; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROSATELLITE REPEATS; MODELS, GENETIC; PHENOTYPE; SYNDROME;

CANIS; GENETTA;

EID: 0033582546     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990219)82:5<371::AID-AJMG3>3.0.CO;2-J     Document Type: Article

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