{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:20Z","timestamp":1747146080406,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T00:00:00Z","timestamp":1663718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deleterious variants in the vascular endothelial growth factor C (<jats:italic>VEGFC<\/jats:italic>) gene have been recently associated with Milroy\u2010like primary lymphedema, an autosomal dominant disorder, characterized mainly by swelling of the lower limbs due to functional impairment of the lymphatic vessels. To date, only 26 patients with congenital lymphedema harboring <jats:italic>VEGFC<\/jats:italic> pathogenic variants were documented. Here, we describe the first prenatal case of a fetus with Milroy\u2010like disease. Fetal ultrasound showed bilateral foot swelling. Chromosomal microarray analysis revealed a 137\u2010kb copy number loss in 4q34.3 including only <jats:italic>VEGFC<\/jats:italic> gene in the propositus fetus. Segregation analysis showed that the deletion was inherited from the affected mother and grandmother. Taken together, our study highlights the important role of microarray analysis to detect subtle chromosomal imbalances in the prenatal setting and contributes to delineate the fetal phenotype of <jats:italic>VEGFC<\/jats:italic>\u2010related primary congenital lymphedema.<\/jats:p>","DOI":"10.1002\/ajmg.a.62973","type":"journal-article","created":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T13:25:37Z","timestamp":1663766737000},"page":"3550-3554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Heterozygous deletion of the <i>VEGFC<\/i> gene in 4q34.3 is associated with Milroy\u2010like lymphedema: First prenatal case report"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9183-7345","authenticated-orcid":false,"given":"Minh\u2010Tuan","family":"Huynh","sequence":"first","affiliation":[{"name":"Centre Hospitalier du Havre Unit\u00e9 de G\u00e9n\u00e9tique Clinique  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