Trisomy 22 is an aneuploidic chromosomal anomaly which is usually fatal unless in mosaic forms.
Pathology
Variants
Duplication of the short arm (p) and a small section of the long arm (q) of chromosome 22 can give result to the cat-eye syndrome - Schmidt-Fraccaro syndrome.
Radiographic features
Antenatal ultrasound
Multiple sonographic abnormalities are often present. Oligohydramnios is a common sonographic finding and can be present in ~ 55% of affected fetuses 1. Intrauterine growth restriction and increased nuchal thickness were slightly less frequent and may be detected in the 1st trimester.
Other sonographically detectable features include
- cerebellar defects 4
- femoral hypoplasia - shortened femur 4
- mild fetal anasarca
- mild generalized skin edema
- edema of the scalp, face, and neck
- congenital cardiac anomalies
- fetal pleural effusion
- fetal ascites
- agenesis of the diaphragm 5
- ambiguous genitalia 5
- single umbilical artery 5
- fetal bradycardia
- congenital renal anomalies 5
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