Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, <scp><i>MECP2</i></scp>‐Related Disorder, and Mosaic Jacobs Syndrome

Our patient represents a unique example of the utility of rWGS in the NICU setting. As two of the three conditions were unexpected results, his case is an important reminder of the possibility of unexpected findings for both providers and families. His case demonstrates the importance of pretest counseling and consenting processes, particularly in an acute setting. It also will add to our understanding of MECP2 variant presentations in males in the future.