Vol 92, No 8 (2021)
Clinical vignette
Published online: 2021-08-16
Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome
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Abstract
Koolen de Vries syndrome is a rare genetic disorder with an estimated prevalence 1:16000 in the general population but it is considered to be an underdiagnosed syndrome. We report a 17q21.31 microdeletion which was diagnosed prenatally in a fetus with aberrant right subclavian artery (ARSA). Koolen de Vries syndrome is a rare chromosomal abnormality and according to the literature this is the first case in which the detection of ARSA led to this syndrome.
Keywords: ARSA17q21.31 microdeletionKoolen de Vries
References
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