Trisomy 22

Radswiki et al.

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

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Article Information

rID: 14990
Tag: cases
Synonyms or Alternate Spellings:

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