"FISHed" out the diagnosis: A case of DiGeorge syndrome

"FISHed" out the diagnosis: A case of DiGeorge syndrome

Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS), a fluorescence in situ hybridization (FISH) analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in th...

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Bibliographic Details
Main Authors: S Bajaj, T S Thombare, M S Tullu, M Agrawal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Journal of Postgraduate Medicine
Subjects:
Child
congenital heart disease (CHD)
DiGeorge syndrome (DGS)
dysmorphism
genetic counseling
microdeletion
Online Access:http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2016;volume=62;issue=2;spage=118;epage=123;aulast=Bajaj

Internet

http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2016;volume=62;issue=2;spage=118;epage=123;aulast=Bajaj

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