{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:45:34Z","timestamp":1789577134740,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5119,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have coined the term \u201cpseudo\u2010trisomy 13 syndrome\u201d to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. Eleven instances are summarized. Two pairs of sibs and two other cases with consanguinity suggest autosomal recessive inheritance. Autosomal recessive inheritance is possible. Alternately, an undetected microdeletion and etiologic heterogeneity (some cases possibly representing dominant new mutations) must be considered. Further delineation is necessary. It is hoped that this paper will serve as a focus for further discussion of the problem.<\/jats:p>","DOI":"10.1002\/ajmg.1320390316","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:23:20Z","timestamp":1118546600000},"page":"332-335","source":"Crossref","is-referenced-by-count":29,"title":["Pseudo\u2010trisomy 13 syndrome"],"prefix":"10.1002","volume":"39","author":[{"suffix":"Jr.","given":"M. Michael","family":"Cohen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","article-title":"Abstract: a new syndrome with cyclopia and trisomy 13 features","volume":"43","author":"Atkin JF","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.50"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340229"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340232"},{"key":"e_1_2_1_7_1","first-page":"64","article-title":"Unknown case: stillborn white male\u201330 weeks (MG 2746)","volume":"7","author":"Donnai D","year":"1988","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01119.x"},{"key":"e_1_2_1_9_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03177.x"},{"key":"e_1_2_1_11_1","series-title":"BD:OAS","first-page":"411","volume-title":"The hydrolethalus syndrome","author":"Krassikoff N","year":"1987"},{"key":"e_1_2_1_12_1","first-page":"78","article-title":"Letter to the editor: holoprosencephaly, polydactyly, and lethal outcome\u2014another observation","volume":"8","author":"Meinecke P","year":"1989","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.501"},{"key":"e_1_2_1_14_1","first-page":"197","article-title":"Premaxillary agenesis, ocular hypotelorism, holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram","volume":"17","author":"Rowlatt U","year":"1980","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00718.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.502"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.11.714"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:40:33Z","timestamp":1698028833000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1002\/ajmg.1320390316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390316","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}