Using genomics to solve a 20-year case study

(Children's National Health System) After 20 years, a patient's family learned that their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another. On April 27, the researchers will receive an award at the Pediatric Endocrine Society's Annual Meeting for best novel insight published in Hormone Research in Paediatrics in 2018.