A 3-year-old is referred for global developmental delay, hypotonia, and characteristic facial features: high forehead, widely spaced eyes, epicanthal folds, a flat nasal bridge, and a prominent philtrum. He has cryptorchidism and short stature. Chromosomal microarray shows deletion at 22q11.2. Which clinical feature is NOT typically associated with this deletion syndrome?
- A Conotruncal cardiac defects (truncus arteriosus, interrupted aortic arch, TOF)
- B Hepatosplenomegaly and Cherry red spot at macula ✓
- C Hypocalcemia due to hypoparathyroidism
- D T-cell immunodeficiency (thymic aplasia/hypoplasia)
Explanation
22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) classically presents with the CATCH-22 mnemonic: Cardiac defects (conotruncal — TOF, truncus, IAA-B, VSD), Abnormal face, Thymic hypoplasia (T-cell immunodeficiency), Cleft palate, Hypocalcemia (hypoparathyroidism), and 22q11 deletion. Hepatosplenomegaly with a cherry red spot at the macula is characteristic of lysosomal storage disorders — particularly GM2 gangliosidoses (Tay-Sachs, Sandhoff) and Niemann-Pick type A — not 22q11.2 deletion. Cognitive-behavioral issues (schizophrenia predisposition, learning difficulties) and palate abnormalities are also part of 22q11.2 syndrome.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.