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Chromosome 22q11.2 Deletion Syndrome 

Chromosome 22q11.2 Deletion Syndrome
Author(s):

Robin D. Clark

and Cynthia J. Curry

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date: 23 May 2019

This chapter discusses the incidence and etiology of chromosome 22q11.2 deletion syndrome. This is the preferred term rather than DiGeorge or Velocardiofacial syndrome. Presenting findings are highly variable including conotruncal heart defects, cleft palate, hypocalcemia and immunodeficiency. The craniofacial findings are subtle. About 10 % of these deletions are inherited. Almost all children have velopharyngeal insufficiency and will require intensive speech therapy and possible surgery. Developmental delay is variable but the frequency of psychiatric disorders including OCD and schizophrenia in older children is a major concern. Recommendations for testing children and their parents are included as are links to online support and resources.

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