{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:43:27Z","timestamp":1740149007691,"version":"3.37.3"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"basic research on science and technology projects in shenzhen","award":["JCYJ20180507183428877","JCYJ20180504165657443"],"award-info":[{"award-number":["JCYJ20180507183428877","JCYJ20180504165657443"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the <jats:italic>FGFR1<\/jats:italic> and <jats:italic>ANK1<\/jats:italic> genes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00\u00a0MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including <jats:italic>FGFR1<\/jats:italic>, which resulted in Kallmann syndrome. There was no deletion of the <jats:italic>ANK1<\/jats:italic> gene associated with spherocytosis, consistent with the phenotype.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01274-0","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T07:03:53Z","timestamp":1654499033000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel 12\u00a0Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Jincheng","family":"Dai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongxi","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6353-8188","authenticated-orcid":false,"given":"Xiangsheng","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benqing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,6]]},"reference":[{"issue":"5","key":"1274_CR1","first-page":"586","volume":"27","author":"WJ Kimberling","year":"1975","unstructured":"Kimberling WJ, Fulbeck T, Dixon L, Lubs HA. 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Written informed consent was obtained from all participants and the legal guardian of the participants under the age of 16.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of identifying images or other personal or clinical details was obtained from all participants and the legal guardian of the participants under the age of 18.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"126"}}