{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:47:44Z","timestamp":1775306864285,"version":"3.50.1"},"reference-count":55,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"crossref","award":["2012CB944600"],"award-info":[{"award-number":["2012CB944600"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>Chromosome copy number variants (CNVs; gains and losses of DNA sequences &gt;1\u2009kb) are wide\u2010spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be responsible for the pathogenesis of major birth defects and cancer, but are also associated with neurodevelopmental disorders at birth. The characteristics of the pathogenic microdeletions and microduplications are important for both clinical implications and genetic counselling regarding test selection for prenatal screening and diagnosis. Unfortunately, our knowledge of the phenotypic effects of most CNV is still minimal, leading to the classification of many CNVs as \u201cgenomic imbalances of unknown clinical significance\u201d. Microdeletions and microduplications can occur in all pregnancies and the spectrum of pathogenic CNVs in fetuses with syndromic malformations is not well studied. This review summarizes our current understanding of CNVs, the common detection methods, and the characteristics of pathogenic CNVs identified in fetuses with syndromic malformations. Birth Defects Research 109:725\u2013733, 2017. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/bdr2.1054","type":"journal-article","created":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T08:00:28Z","timestamp":1496304028000},"page":"725-733","source":"Crossref","is-referenced-by-count":11,"title":["Chromosome copy number variants in fetuses with syndromic malformations"],"prefix":"10.1002","volume":"109","author":[{"given":"Huilin","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Prince of Wales Hospital, The Chinese University of Hong Kong Hong Kong SAR China"},{"name":"Shenzhen Research Institute, Department of Obstetrics and Gynaecology The Chinese University of Hong Kong Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew Hoi Kin","family":"Chau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Prince of Wales Hospital, The Chinese 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