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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638081 | PMC |
http://dx.doi.org/10.1002/ccr3.6545 | DOI Listing |
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