A severe Angelman syndrome (AS) patient with a very large deletion (19.3 Mb) at 15q11.2-q14 required laryngotracheal separation, which is not a common surgery in AS. Comparative genomic hybridization-based microarrays can be useful to confirm deletion size and clinical severity.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638081PMC
http://dx.doi.org/10.1002/ccr3.6545DOI Listing

Publication Analysis

Top Keywords

laryngotracheal separation
8
severe angelman
8
angelman syndrome
8
separation surgery
4
surgery patient
4
patient severe
4
syndrome involving
4
involving 193
4
193 deletion
4
deletion 15q112-q14
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!