{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T21:20:39Z","timestamp":1762809639731,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010822","name":"Chengdu Science and Technology Bureau","doi-asserted-by":"publisher","award":["2021\u2010YF05\u201001658\u2010SN"],"award-info":[{"award-number":["2021\u2010YF05\u201001658\u2010SN"]}],"id":[{"id":"10.13039\/501100010822","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we conducted peripheral blood chromosome G\u2010banding karyotyping and whole\u2010exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G\u2010banding karyotyping was also carried out on the proband's parents and brother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The 7\u2010month\u2010old proband was found to have a 26.738\u2009Mb 4p15.33\u2010p14 deletion as identified by chromosome G\u2010banding karyotyping and WES.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70005","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T11:45:25Z","timestamp":1725363925000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies"],"prefix":"10.1002","volume":"12","author":[{"given":"Ying","family":"Pang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Sichuan Provincial Maternity and Child Health Care Hospital  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Maternity and Child Health Care Hospital  Chengdu 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