Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11. 2 deletion syndromes

LJ Kobrynski, KE Sullivan - The Lancet, 2007 - thelancet.com
LJ Kobrynski, KE Sullivan
The Lancet, 2007thelancet.com
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in
common a high frequency of hemizygous deletions of chromosome 22q11. 2. This deletion
syndrome is very common, affecting nearly one in 3000 children. Here, we focus on recent
advances in cardiac assessment, speech, immunology, and pathophysiology of
velocardiofacial syndrome. The complex medical care of patients needs a multidisciplinary
approach, and every patient has his own unique clinical features that need a tailored …
Summary
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2. This deletion syndrome is very common, affecting nearly one in 3000 children. Here, we focus on recent advances in cardiac assessment, speech, immunology, and pathophysiology of velocardiofacial syndrome. The complex medical care of patients needs a multidisciplinary approach, and every patient has his own unique clinical features that need a tailored approach. Patients with chromosome 22q11.2 deletion syndrome might have high level of functioning, but most often need interventions to improve the function of many organ systems.
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