{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:40:35Z","timestamp":1788871235966,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100004543","name":"China Scholarship Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004397","name":"Ministry of Public Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>\n                    We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339\u2009Mb distal deletion at 10p15.3 (chr10:126,161\u20132,465,089) and a 46.344\u2009Mb duplication of 13q21.33\u2013q34 (chr13:67,779,708\u2013114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37\n                    <jats:sup>+6<\/jats:sup>\n                    weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900\u2009g (10\u201325th centile) and at five months was 5500\u2009g (5\u201310th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p\/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.\n                  <\/jats:p>","DOI":"10.1155\/2012\/821347","type":"journal-article","created":{"date-parts":[[2012,10,23]],"date-time":"2012-10-23T17:04:52Z","timestamp":1351011892000},"page":"1-5","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature"],"prefix":"10.1155","volume":"2012","author":[{"given":"Yuan","family":"Wei","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China"},{"name":"Laboratory of Molecular Cytogenetics and Genomics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Xu","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Cytogenetics and Genomics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peining","family":"Li","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Cytogenetics and Genomics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangyu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"3","first-page":"317","volume-title":"C hromosomal clinical abnormalities","year":"1996"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34043"},{"issue":"2","key":"6","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/BF02861664","volume":"6","year":"1986","journal-title":"Journal of Tongji Medical University"},{"issue":"3","key":"10","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jmg.27.3.188","volume":"27","year":"1990","journal-title":"Journal of Medical Genetics"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.06.002"},{"issue":"1","key":"7","doi-asserted-by":"crossref","first-page":"441","DOI":"10.4238\/vol9-1gmr716","volume":"9","year":"2010","journal-title":"Genetics and Molecular Research"},{"issue":"3","key":"8","first-page":"263","volume":"22","year":"2011","journal-title":"Genetic Counseling"},{"issue":"2","key":"2","first-page":"188","volume":"93","year":"1994","journal-title":"Human Genetics"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33366"},{"key":"1","doi-asserted-by":"publisher","DOI":"10.1086\/302410"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2012\/821347.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2012\/821347.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2012\/821347.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T21:47:44Z","timestamp":1497995264000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2012\/821347\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":10,"alternative-id":["821347","821347"],"URL":"https:\/\/doi.org\/10.1155\/2012\/821347","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}