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16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

7 Dec 2022

Abstract excerpt

OBJECTIVES: 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics associated with 16p13.11 microdeletion/microduplication, in order to improve the understanding, diagnosis and monitoring of...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 36476185
DOI: 10.1186/s12884-022-05267-w

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