Abstract
Familial neuroblastoma is an extremely rare entity with only 1 – 2% of
neuroblastoma cases thought to have a familial inheritance, mainly due
to PHOX2B and ALK germline mutations. 16p11.2 microdeletion syndrome has
been reported to be associated with neuroblastoma. We present the first
case report of a patient presenting with metastatic neuroblastoma,
developmental delay, and atypical facies, in whom we identified an
inherited germline 16p11.2 microdeletion.