{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T17:01:14Z","timestamp":1778432474135,"version":"3.51.4"},"reference-count":39,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T00:00:00Z","timestamp":1636329600000},"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":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 2021, were searched, and their clinical information was recorded and summarized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One 11.5\u2010year\u2010old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a right ovarian cyst was included. Her height was 126.9\u00a0cm (\u22123.45 SDS). Karyotype analysis showed 46, XX, r (15). WES revealed a 4.5\u00a0Mb heterozygous deletion in the chromosome 15q26.2\u2010q26.3 region, encompassing genes from <jats:italic>ARRDC4<\/jats:italic> to <jats:italic>OR4F15<\/jats:italic>. Gonadotrophin\u2010releasing hormone analogue (triptorelin) and rhGH were administered for 6\u00a0months. The height has increased 3.8\u00a0cm (+0.2SDS) and the calculated growth rate has improved from 4.7 to 7.6\u00a0cm\/y. The literature review indicated the main clinical manifestations of r (15) syndrome with prenatal and postnatal growth retardation, characteristic craniofacial features, and multisystem abnormalities, and rhGH treatment is beneficial for r (15) syndrome patients with short stature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We delineate the clinical spectrum of r (15) syndrome with the identification of an additional individual and rhGH treatment is beneficial for r (15) syndrome patients with short stature.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1842","type":"journal-article","created":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T11:49:32Z","timestamp":1636372172000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature 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