{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T02:22:57Z","timestamp":1767666177205,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T00:00:00Z","timestamp":1491782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38192","type":"journal-article","created":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T13:11:56Z","timestamp":1491829916000},"page":"1673-1680","source":"Crossref","is-referenced-by-count":3,"title":["Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5268-696X","authenticated-orcid":false,"given":"Chad","family":"Douglas","sequence":"first","affiliation":[{"name":"Department of Pediatrics San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen A.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Surgery San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Rohena","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics San Antonio Military Medical Center San Antonio Texas"},{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01910544"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04369.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.126"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282296"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<290::AID-AJMG12>3.0.CO;2-E"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02726.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293869"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1978.tb01898.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490308"},{"issue":"92","key":"e_1_2_6_12_1","first-page":"1","article-title":"Recombinant chromosome with partial 14q trisomy due to maternal pericentric inversion","volume":"8","author":"Kurtulgan H. 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