{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T08:35:43Z","timestamp":1775810143666,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,2,27]],"date-time":"2021-02-27T00:00:00Z","timestamp":1614384000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2021,2,27]]},"abstract":"<jats:p>We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76\u2009Mb tetrasomy of proximal 22Q11.1\u2009\u27f6\u200922Q11.21 consistent with CES {arr22q11.1q11.21 (16,888,899\u201318,644,241) X4}, a typical small type I CES chromosome. The patient has many of the basic characteristics of CES; however, he is taller than his peers instead of shorter. It is rarely reported in the past since short stature is a common feature of this syndrome. Furthermore, the boy has no intellectual disorder and attends a normal school since he was six-year-old. What bothered him most were recurrent respiratory infections, retromicrognathia, and heart defects.<\/jats:p>","DOI":"10.1155\/2021\/8824184","type":"journal-article","created":{"date-parts":[[2021,2,28]],"date-time":"2021-02-28T17:35:14Z","timestamp":1614533714000},"page":"1-4","source":"Crossref","is-referenced-by-count":3,"title":["A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome"],"prefix":"10.1155","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4439-6276","authenticated-orcid":true,"given":"Jinjie","family":"Li","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5251-8360","authenticated-orcid":true,"given":"Yue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1508-8124","authenticated-orcid":true,"given":"Yanjun","family":"Diao","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1318-0998","authenticated-orcid":true,"given":"Rui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2595-9109","authenticated-orcid":true,"given":"Liqing","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Xijing Hospital, Air Force Military Medical University, Xi\u2019an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-2387","authenticated-orcid":true,"given":"Lei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0293-247X","authenticated-orcid":true,"given":"Jiayun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4475-7067","authenticated-orcid":true,"given":"Weixun","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Xijing Hospital, Air Force Military Medical University, Xi\u2019an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0045-8380","authenticated-orcid":true,"given":"Liu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi\u2019 an 710032, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6702538"},{"key":"2","first-page":"273","article-title":"Phenotypic variability of the cat eye syndrome. 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