{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T12:22:54Z","timestamp":1772799774330,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:00:00Z","timestamp":1657584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phenotype and microdeletion region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected clinical records of the fetus and summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue or peripheral blood collected from parents. In addition, whole\u2010exome sequencing (WES) and copy number variation sequencing (CNV\u2010seq) were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The fetus presented a previously unreported interstitial deletion of 2q24.3\u2010q32.1. WES and CNV\u2010seq revealed a de novo 18.46\u2009Mb deletion at 2q24.3\u2010q32.1, a region involving 94 protein\u2010coding genes, including <jats:italic>HOXD13, MAP3K20, DLX1, DLX2, SCN2A<\/jats:italic>, and <jats:italic>SCN1A<\/jats:italic>. The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Herein, we report a fetus with a novel microdeletion of chromosome 2q24.3\u2010q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of <jats:italic>HOXD13<\/jats:italic> might be related to limb deformity in the fetus.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24602","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T11:12:10Z","timestamp":1657624330000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel chromosome 2q24.3\u2010q32.1 microdeletion in a fetus with multiple malformations"],"prefix":"10.1002","volume":"36","author":[{"given":"Mianmian","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Wenzhou Medical University  Wenzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Wenzhou Medical University  Wenzhou 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