{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T01:40:35Z","timestamp":1789522835968,"version":"build-2803163510"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T00:00:00Z","timestamp":1648080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Interstitial chromosome 20q deletions, containing <jats:italic>GNAS<\/jats:italic> imprinted locus, are rarely reported in the past. Hereby, we presented a Chinese boy with a novel 4.36\u00a0Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial appearance and mild intellectual abnormality. With 3\u00a0years\u2019 growth hormone treatment, his height was increased from 90 to 113.5\u00a0cm. This report is the first time to describe the outcome of clinical treatment on a patient with this rare chromosomal 20 long arm interstitial deletion, containing <jats:italic>GNAS<\/jats:italic> locus, which may facilitate the diagnosis and treatment of this type of patient in the future.<\/jats:p>","DOI":"10.3389\/fgene.2022.859185","type":"journal-article","created":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T04:26:19Z","timestamp":1648527979000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone"],"prefix":"10.3389","volume":"13","author":[{"given":"Yu","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Chu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuai","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimin","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanling","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingyin","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoshan","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,3,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1002\/ajmg.10751","article-title":"Constitutional Deletion of Chromosome 20q in Two Patients Affected with Albright Hereditary Osteodystrophy","volume":"113","author":"Aldred","year":"2002","journal-title":"Am. 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