2023
DOI: 10.3390/medicina59101838
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Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report

Radu Vlădăreanu,
Călina Maier,
Raluca Tocariu
et al.

Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed wi… Show more

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