Huifei Lu

Abstract Genomic tests can illuminate and mislead. I cared for a school-aged boy with short stature whose copy-number variant at 1q21.1—typically associated with variable neurodevelopmental and cardiac features rather than isolated short stature—seduced me into a syndromic label. I told his family that a “pathogenic” deletion likely explained his growth. Months later, family segregation testing contradicted the story: some short relatives lacked the deletion; a taller cousin carried it.