{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T10:53:44Z","timestamp":1778842424084,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T00:00:00Z","timestamp":1413936000000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Health and Labor Sciences Research Grant","award":["H22-103, H24-041"],"award-info":[{"award-number":["H22-103, H24-041"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microdeletion of 16q12 is a rare chromosomal abnormality. We present the cases of two <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese patients with developmental and renal symptoms of differing clinical severity. Both patients had 16q12 interstitial microdeletions that included the entire <jats:italic><jats:styled-content style=\"fixed-case\">SALL1<\/jats:styled-content><\/jats:italic> gene. Patient 1 was a 15\u2010year\u2010old <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese boy clinically diagnosed with branchio\u2010oto\u2010renal syndrome with mild developmental delay, but with no imperforate anus or polydactyly. Array comparative genome hybridization (<jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content>) indicated a 5.2\u2009Mb deletion in 16q12, which included <jats:italic><jats:styled-content style=\"fixed-case\">SALL1<\/jats:styled-content><\/jats:italic>. Patient 2 was a 13\u2010year\u2010old <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese boy diagnosed with Townes\u2013Brocks syndrome and severe developmental delay, epilepsy, and renal insufficiency requiring renal replacement therapy. Fluorescence <jats:italic>in situ<\/jats:italic> hybridization indicated deletion of the entire <jats:italic><jats:styled-content style=\"fixed-case\">SALL1<\/jats:styled-content><\/jats:italic> gene. Subsequent <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> showed a 6\u2009Mb deletion in 16q12q13, which included <jats:italic><jats:styled-content style=\"fixed-case\">SALL1<\/jats:styled-content><\/jats:italic>. Precise analysis of the present two cases will give us some clues to elucidate the pathogenic mechanisms of 16q12 microdeletion syndrome.<\/jats:p>","DOI":"10.1111\/ped.12426","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T06:49:30Z","timestamp":1413960570000},"source":"Crossref","is-referenced-by-count":15,"title":["16q12 microdeletion syndrome in two <scp>J<\/scp>apanese boys"],"prefix":"10.1111","volume":"56","author":[{"given":"Naoya","family":"Morisada","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Sekine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Toho University Ohashi Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shingo","family":"Ishimori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kakogawa West\u2010City Hospital  Kakogawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Tsuda","sequence":"additional","affiliation":[{"name":"Tsuda Children's Clinic  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kakogawa West\u2010City Hospital  Kakogawa Japan"},{"name":"Adachi Children's Clinic  Kakogawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Wakayama Medical University  Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryojiro","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Nephrology Hyogo Prefectural Children's Hospital  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9396"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34387"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2005.00626.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34426"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.458"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01094.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-137"},{"key":"e_1_2_5_9_1","volume-title":"GeneReviewsTM [Internet]","author":"Kohlhase J","year":"2007"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.002873"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006030277"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12426","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12426","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T12:25:49Z","timestamp":1696163149000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1111\/ped.12426"],"URL":"https:\/\/doi.org\/10.1111\/ped.12426","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10]]}}}