22q11.2 deletion syndrome screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{22q11.2 deletion syndrome}} | {{22q11.2 deletion syndrome}} | ||
{{CMG}} {{AE}} | {{CMG}} {{AE}} {{ajane}} | ||
==Overview== | ==Overview== | ||
Screening of DGS depends on known family history and then approaching with genetic studies in individual cases. | |||
==Screening== | ==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.<ref>{{Cite web|url=https://emedicine.medscape.com/article/886526-workup#c7|title=|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> | |||
==References== | ==References== | ||
Latest revision as of 18:52, 10 July 2020
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22q11.2 deletion syndrome Microchapters |
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Differentiating 22q11.2 deletion syndrome from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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22q11.2 deletion syndrome screening On the Web |
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American Roentgen Ray Society Images of 22q11.2 deletion syndrome screening |
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Risk calculators and risk factors for 22q11.2 deletion syndrome screening |
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
- ↑ https://emedicine.medscape.com/article/886526-workup#c7. Missing or empty
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