22q11.2 deletion syndrome screening

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22q11.2 deletion syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Differentiating 22q11.2 deletion syndrome from other Diseases

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Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S[2]

Overview

Screening of DGS depends on known family history and then approaching with genetic studies in individual cases.

Screening

Indications of screening depends on the clinical presentation. The 22q11.2 deletion occurs in 20-30% of newborns with isolated conotruncal cardiac malformations. Therefore, screening all newborns with conotruncal anomalies for 22q11.2 deletions is well justified. Some other candidates for screening are neonatal hypocalcemia (74%), interrupted aortic arch (50-60%), and velopharyngeal insufficiency (64%). Only about 1% of cases with any cardiac lesion detected later in life and 0-6% of cases of isolated schizophrenia (0-6%) may have 22q11.2DS, thus these facts may warrant an evaluation by a clinical geneticist for advice regarding screening for 22q11.2DS.[1]

References

  1. https://emedicine.medscape.com/article/886526-workup#c7. Missing or empty |title= (help)<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

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