The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).

[22q11.2 deletion syndrome]

A 2 -year -old boy with chromosome 22 q 11 .2 deletion syndrome was referred for recurrent sinopulmonary infections . He was diagnosed shortly after birth by a fluorescence in situ hybridization test that was performed due to interrupted aortic arch type B . He had no hypocalcemia , and his recovery from cardiac repair was uneventful . He had difficulty feeding and gained weight slowly , but , otherwise , there were no concerns during his first year of life . At 15 months of age , he began to develop significant otitis media and bronchitis . He was hospitalized once for pneumonia at 18 months of age and has never been off antibiotics for more than 1 week since then . He has not had any previous immunologic evaluation . Recurrent sinopulmonary infections in a child with chromosome 22 q 11 .2 deletion syndrome can have the same etiologies as in any other child . Atopy , anatomic issues , cystic fibrosis , and new environmental exposures could be considered in this setting . Early childhood can be problematic for patients with chromosome 22 q 11 .2 deletion syndrome due to unfavorable drainage of the middle ear and sinuses . Atopy occurs at a higher frequency in 22 q 11 .2 deletion syndrome , and these children also have a higher rate of gastroesophageal reflux and aspiration than the general population . As would be appropriate for any child who presents with recurrent infections at 2 years of age , an immunologic evaluation should be performed . In this review , we will highlight recent findings and new data on the management of children and adults with chromosome 22 q 11 .2 deletion syndrome .

Diseases
Validation

Diseases presenting "interrupted aortic arch" symptom

22q11.2 deletion syndrome

holt-oram syndrome

This symptom has already been validated