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Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

16 Sept 2016

Abstract excerpt

OBJECTIVE: The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder. METHODS: Over a period of 9 years in a single referral center, seven fetuses were...

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PMID: 27634641
DOI: 10.1002/pd.4926

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