Citation, DOI, disclosures and article data
Citation:
Campos A, Trisomy 22. Reference article, Radiopaedia.org (Accessed on 21 Jan 2025) https://doi.org/10.53347/rID-14990
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
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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1. Schwendemann W, Contag S, Koty P, Miller R, Devers P, Watson W. Ultrasound Findings in Trisomy 22. Am J Perinatol. 2009;26(2):135-7. doi:10.1055/s-0028-1091399 - Pubmed
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2. Barseghyan K, Sklansky M, Paquette L, Randolph L, Miller D. Agenesis of the Ductus Venosus in a Fetus with Nonmosaic Trisomy 22. Prenat Diagn. 2009;29(9):901-2. doi:10.1002/pd.2309 - Pubmed
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3. Kontomanolis EN, Pandya P, Limperis V. Trisomy 22: the heart aspect. J Obstet Gynaecol. 2010;30 (6): 627-8. doi:10.3109/01443615.2010.494204 - Pubmed citation
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4. Stressig R, Körtge-jung S, Hickmann G et-al. Prenatal sonographic findings in trisomy 22: five case reports and review of the literature. J Ultrasound Med. 2005;24 (11): 1547-53. J Ultrasound Med (full text) - Pubmed citation
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5. Sepulveda W, Be C, Schnapp C, Roy M, Wimalasundera R. Second-Trimester Sonographic Findings in Trisomy 22: Report of 3 Cases and Review of the Literature. J Ultrasound Med. 2003;22(11):1271-5. doi:10.7863/jum.2003.22.11.1271 - Pubmed
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6. Volpe P, Buonadonna A, Campobasso G, Di Carlo A, Stanziano A, Gentile M. Cat-Eye Syndrome in a Fetus with Increased Nuchal Translucency: Three-Dimensional Ultrasound and Echocardiographic Evaluation of the Fetal Phenotype. Ultrasound Obstet Gynecol. 2004;24(4):485-7. doi:10.1002/uog.1723 - Pubmed
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