Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report

Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report

Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics. The diagnosis of CDLS is typically done clinically after birth; however, recent studies have demonstrated the ability to use prenatal ultra...

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Bibliographic Details
Main Authors: Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2024-01-01
Series:American Journal of Perinatology Reports
Subjects:
Cornelia de Lange's syndrome
prenatal diagnosis
whole-exome sequencing
prenatal ultrasound
cohesinopathies
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1776149

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