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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
22q11 deletion syndrome: is that what they used to call . . . ?
1Capstone College of Nursing, University of Alabama, Tuscaloosa, AL, USA. mgumlauf@bama.ua.edu
Purpose:
22q11 deletion syndrome (22q11DS) is a very common, but commonly overlooked, disorder that has many variable features, such as serious heart defects, speech and articulation problems, immune compromise, learning problems, pervasive developmental disorders, and a late appearing phenotype of this condition--mental illness.
Conclusion:
Persons with 22q11DS are likely to be medically complex patients with pervasive developmental disorders and late appearing mental problems.
Practice Implications:
Establishing this diagnosis is useful to families and healthcare providers to anticipate and address immediate and future issues surrounding health promotion, disease prevention, and health maintenance.
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