Trisomy 22

Last revised by The Radswiki on 13 Sep 2011

Trisomy 22 is an aneuploidic chromosomal anomaly which is usually fatal unless in mosaic forms.



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

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