Citation, DOI, disclosures and article data
Citation:
Radswiki T, Trisomy 22. Reference article, Radiopaedia.org (Accessed on 04 May 2024) 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
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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1. Schwendemann WD, Contag SA, Koty PP et-al. Ultrasound findings in trisomy 22. Am J Perinatol. 2009;26 (2): 135-7. doi:10.1055/s-0028-1091399 - Pubmed citation
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2. Barseghyan K, Sklansky MS, Paquette LB et-al. 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 citation
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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 et-al. Second-trimester sonographic findings in trisomy 22: report of 3 cases and review of the literature. J Ultrasound Med. 2003;22 (11): 1271-5. J Ultrasound Med (full text) - Pubmed citation
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6. Volpe P, Buonadonna AL, Campobasso G et-al. 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 citation
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