Patient 2: 17q21.31 deletion
Patient 2 was seen by dermatology at age nine years due to a concerning forearm mole. She had a past history of seizures, short stature, developmental delay, scoliosis and hypotonia. Pathology from WLE confirmed SM, sentinel lymph node biopsy (SLNB) identified metastatic disease, and complete lymph node (LN) dissection was negative. Treatment was excision. No GVs were identified on a 12-gene melanoma panel but a 180k Oligo Chromosome Microarray was ordered and detected a de novo 17q21.31 deletion, consistent with Koolen-de Vries syndrome.