TY  - JOUR
AU  - Sari, Joni Indah
AU  - Sihombing, Nydia Rena Benita
AU  - Maharani, Nani
AU  - Tri Indah, Tri Indah
AU  - Utari, Agustini
PY  - 2025
DA  - 2025/02/14
TI  - When Should We Raise Clinical Suspicion of DiGeorge Syndrome: Two Case Reports from a Tertiary Hospital in Indonesia
JO  - OBM Genetics
SP  - 285
VL  - 09
IS  - 01
AB  - DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two cases of DiGeorge syndrome, each demonstrating a different combination of clinical phenotypes. Two girls (2 years-3 months old and 2 years-2 months old) were diagnosed with 22q11.2DS following chromosomal microarray analysis (CMA) results. The patients in both cases showed some similar clinical phenotypes, including developmental delay, seizure, recurrent infections, hypothyroidism, and dysmorphic features (down-slanting palpebral fissure, bulbous nose, low-set ears, and small down-turned mouth). However, the patient in case 2 exhibits more typical phenotypes, including congenital heart defect and hypocalcemia. Besides congenital heart anomalies, clinicians should raise clinical suspicion of DiGeorge syndrome in the presence of developmental delay, seizure, signs of immunodeficiency (recurrent infections), and dysmorphic features in children. Phenotype variability of DiGeorge syndrome is primarily attributed to the specific gene involved in the deletion, incomplete penetrance, and variable expressivity.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2501285
DO  - 10.21926/obm.genet.2501285
ID  - Sari2025
ER  -