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“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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Detalles Bibliográficos
Autores principales:	Bajaj, S, Thombare, TS, Tullu, MS, Agrawal, M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2016
Materias:	Grand Round Case
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944343/ https://www.ncbi.nlm.nih.gov/pubmed/26489877 http://dx.doi.org/10.4103/0022-3859.167730

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