{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:04:06Z","timestamp":1787015046857,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,5,29]],"date-time":"2012-05-29T00:00:00Z","timestamp":1338249600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a female fetus with sirenomelia with 46,X,t(X;16)(p11.23;p12.3) de novo. Fluorescence\n                    <jats:italic>in situ<\/jats:italic>\n                    hybridization (FISH) with bacterial artificial chromosomes were employed for narrowing down the breakpoint regions. On chromosome 16, the breakpoint was mapped in the region of RP11\u2010453F10 (19\u2003920\u2003640\u201320\u2003118\u2003153\u2003bp from 16pter). On chromosome X, the breakpoint was mapped in the region of RP11\u2010794A15 (47\u2003333\u2003744\u201347\u2003524\u2003066\u2003bp from Xpter). This is the first case report of sirenomelia associated with translocations. The abnormal phenotype, associated with a balanced translocation, was caused by deletion or breakage of dosage\u2010sensitive genes of the breakpoint, disruption of an imprinted gene, or uniparental disomy. Although the parental origin of normal 16 and der(16) remained undetermined, this case will provide insight into the pathogenetic mechanism of sirenomelia.\n                  <\/jats:p>","DOI":"10.1111\/j.1741-4520.2011.00326.x","type":"journal-article","created":{"date-parts":[[2011,6,30]],"date-time":"2011-06-30T09:27:09Z","timestamp":1309426029000},"page":"106-110","source":"Crossref","is-referenced-by-count":23,"title":["Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)"],"prefix":"10.1111","volume":"52","author":[{"given":"Kenji","family":"Kurosawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Tanoshima\u2010Takei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuo","family":"Masuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukichi","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Yamanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.855001"},{"key":"e_1_2_7_3_1","first-page":"204","article-title":"An analysis of common isodisomic regions in five mUPD 16 probands","volume":"36","author":"Abu\u2010Amero SN","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001002)94:4<284::AID-AJMG4>3.0.CO;2-M"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-835314"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32028"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090920303"},{"key":"e_1_2_7_8_1","first-page":"8","article-title":"Uniparental disomy for chromosome 16 in humans","volume":"52","author":"Kalousek D","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090340507"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20206"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016972"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0128-5"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199610)16:10<963::AID-PD982>3.0.CO;2-S"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-993925"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10983"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420260313"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0890-6238(97)00153-6"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.851501"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.624"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmor.1051410308"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(94)70162-8"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.78.3.451"},{"key":"e_1_2_7_23_1","first-page":"7","article-title":"Sirenomelia. 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