Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation

American Journal of Medical Genetics

Volumn 95, Issue 2, 2000, Pages 145-149

  Tekin, Mustafa ^a   Jackson Cook, Colleen ^a   Buller, Arlene ^a   Ferreira Gonzalez, Andrea ^a   Pandya, Arti ^a   Garrett, Carleton T ^a   Bodurtha, Joann ^a,b  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

Angelman syndrome; Chromosome deletion; DNA methylation; FISH; Mosaicism

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; HUMAN; MOSAICISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ANGELMAN SYNDROME; CASE REPORT; CELL NUCLEUS; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DNA METHYLATION; FEMALE; GENE DELETION; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; PARENTS; PRADER-WILLI SYNDROME; REPRODUCIBILITY OF RESULTS;

EID: 0034645522     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001113)95:2<145::AID-AJMG10>3.0.CO;2-R     Document Type: Article

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