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

Journal of Postgraduate Medicine

关键词: Child;    congenital heart disease (CHD);    DiGeorge syndrome (DGS);    dysmorphism;    genetic counseling;    microdeletion;   

DOI  :  10.4103/0022-3859.167730

来源: DOAJ

【 摘 要 】

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 the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy.

【 授权许可】

Unknown