“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

Internet

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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