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Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

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Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in… Click to show full abstract

Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31 microdeletions (Koolen‐de Vries syndrome) using chromosomal microarrays (CMA).

Keywords: ultrasound findings; koolen vries; prenatal ultrasound; vries foetuses; foetuses central; findings koolen

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021

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