{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:39Z","timestamp":1753869699733,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T00:00:00Z","timestamp":1711756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Limited research has been conducted regarding the elucidation of genotype\u2013phenotype correlations within the 20q13.33 region. The genotype\u2013phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype\u2013phenotype relationship.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study. Karyotype analysis and chromosomal microarray analysis (CMA) were performed to investigate chromosomal abnormalities and copy number variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results of high\u2010resolution G\u2010banding karyotype analysis elicited a 46,XY,der(20)add(20)(q13.3) in Patient 1. This patient exhibited various clinical manifestations, such as global developmental delay, intellectual disability, seizures, and other congenital diseases. Subsequently, a 1.0\u2010Mb deletion was identified in the 20q13.33 region alongside a 5.2\u2010Mb duplication in the 14q32.31q32.33 region. In Patient 2, CMA results revealed a 1.8\u2010Mb deletion in the 20q13.33 region with a 4.8\u2010Mb duplication of 17q25.3. The patient exhibited additional abnormal clinical features, including micropenis, congenital heart disease, and a distinctive crying pattern characterized by a crooked mouth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2429","type":"journal-article","created":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T07:55:10Z","timestamp":1711785310000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3\/14q32.31q32.33 microduplication in Chinese pediatric patients"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8087-205X","authenticated-orcid":false,"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital  Quanzhou 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