Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)

Elena Perez, Kathleen E. Sullivan

Research output: Contribution to journalArticle

95 Citations (Scopus)

Abstract

Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once identified, patients with the deletion can receive appropriate multidisciplinary care. We describe recent advances in understanding the genetic basis for the syndrome, the clinical manifestations of the syndrome, and new information on autoimmune diseases in this syndrome.

Original languageEnglish
Pages (from-to)678-683
Number of pages6
JournalCurrent Opinion in Pediatrics
Volume14
Issue number6
DOIs
StatePublished - Dec 1 2002

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DiGeorge Syndrome
Chromosome Deletion
Caregivers
Autoimmune Diseases
Population

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). / Perez, Elena; Sullivan, Kathleen E.

In: Current Opinion in Pediatrics, Vol. 14, No. 6, 01.12.2002, p. 678-683.

Research output: Contribution to journalArticle

Perez, Elena ; Sullivan, Kathleen E. / Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). In: Current Opinion in Pediatrics. 2002 ; Vol. 14, No. 6. pp. 678-683.
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