A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype

European Journal of Medical Genetics

Volumn 53, Issue 4, 2010, Pages 221-224

  Barøy, Tuva ^a,b   Misceo, Doriana ^a,b   Braaten, Øivind ^b   Helle, Johan R ^b   Fannemel, Madeleine ^b   Strømme, Petter ^a,b   Frengen, Eirik ^a,b  

^a UNIVERSITY OF OSLO   (Norway)

^b ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

Author keywords

15q13 deletion; ACGH; Angelman syndrome like phenotype; Mental retardation

Indexed keywords

ARTICLE; ATAXIA; CASE REPORT; CHILD; CHROMOSOME 15; CHROMOSOME MUTATION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; HETEROZYGOTE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LANGUAGE DISABILITY; MALE; PHENOTYPE; SCHOOL CHILD; STEREOTYPY; ADULT; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; FEMALE; GENETICS; PATHOLOGY;

ADULT; ANGELMAN SYNDROME; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 77954383882     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.03.010     Document Type: Article

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