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

Tuva Barøy; Doriana Misceo; Oivind Braaten; Johan R Helle; Madeleine Fannemel; Petter Strømme; Eirik Frengen

doi:10.1016/j.ejmg.2010.03.010

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

Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9.

Authors

Tuva Barøy¹, Doriana Misceo, Oivind Braaten, Johan R Helle, Madeleine Fannemel, Petter Strømme, Eirik Frengen

Affiliation

¹ Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.

PMID: 20382277
DOI: 10.1016/j.ejmg.2010.03.010

Abstract

We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Angelman Syndrome / genetics*
Angelman Syndrome / pathology
Child
Chromosome Deletion*
Chromosomes, Human, Pair 15 / genetics*
Comparative Genomic Hybridization
Female
Humans
In Situ Hybridization, Fluorescence
Male
Oligonucleotide Array Sequence Analysis
Phenotype