Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Abstract

A 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2deletion syndrome (22q11DS) (Figure).He was born via spontaneous vaginal delivery, weighing 3033 g, to a 31-year-old G3P3 mother after a fullterm pregnancy complicated only by mild polyhydramnios.Family history was noncontributory.Apgar scores were 8 at 1 minute and 9 at 5 minutes.With the exception of a weak cry, the results of the infant's initial examination were unremarkable, and he was moved to the well-baby nursery.Shortly thereafter, a cardiac murmur was noted, the cardiology department was consulted, and the child was transferred to a local tertiary care facility with a diagnosis of tetralogy of Fallot.Stable, he was discharged home at 3 days of life.At 5 days of life, he had jerky movements.On presentation to the local emergency department, his total calcium level was 4.7 mg/dL, and later partial hypoparathyroidism was diagnosed.At that time, a consulting geneticist suggested the diagnosis of chromosome 22q11DS.Weeks later, the family received a telephone call confirming the diagnosis with fluorescence in situ hybridization (FISH).No additional information about the diagnosis, prognosis, etiology, or recurrence risk was provided until the child was 5 months of age, when he underwent cardiac repair at a third hospital, where a comprehensive 22q11DS program was in operation.In the interim, the child had feeding difficulties requiring supplemental nasogastric tube feeds, nasal regurgitation, and gastroesophageal reflux, while the parents searched the internet for reliable information about their son's diagnosis.