Article
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
European journal of medical genetics - 1 Jan 2000
Barøy Tuva, Misceo Doriana, Braaten Oivind, Helle Johan R, Fannemel Madeleine, Strømme Petter, Frengen Eirik
Abstract excerpt
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...
Topics
- Adult
- Angelman Syndrome
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Comparative Genomic Hybridization
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Oligonucleotide Array Sequence Analysis