Individualized Medical Genetics: Camryn’s Story
Genetics experts at Children’s Hospital of Philadelphia have helped Cortney and Ryan identify their daughter’s rare genetic mutation, leading to improved care.
Division of Human Genetics Patient Stories
Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.
Appointments and referrals
Chromosome 22q11.2 Deletion and Tetralogy of Fallot: Jack's Story
Born with a heart defect called tetralogy of Fallot, Jack was just 9 days old when his family learned he also had chromosome 22q11.2 deletion, a rare chromosomal difference.