{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,31]],"date-time":"2026-05-31T05:00:27Z","timestamp":1780203627340,"version":"3.54.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:00:00Z","timestamp":1780099200000},"content-version":"vor","delay-in-days":149,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pallister\u2013Killian syndrome (PKS) is a rare disorder caused by tissue\u2010limited mosaicism tetrasomy of chromosome 12p. Affected newborns show a typical dysmorphic pattern: macrosomia, coarse facies, hypertelorism, small nose with long philtrum, V\u2010shaped upper lip, low set ears, frontotemporal alopecia, and patchy pigmentary skin and hair anomalies. Seizures and developmental delay, cardiac defects, diaphragmatic hernia, and renal\/anal malformations may be associated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>Here, we report the case of a newborn with multiple congenital malformations, later diagnosed with PKS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Phenotypic and cytogenetic variability of PKS, together with the lack of correlation between tetrasomic cells\u2019 proportion and disease severity, may be challenging for diagnosis. Therefore, a detailed physical examination is mandatory for early clinical suspicion and to guide further investigations. The usefulness of array\u2010CGH performed on peripheral blood should also be emphasized as a sensitive diagnostic tool.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crig\/8819010","type":"journal-article","created":{"date-parts":[[2026,5,31]],"date-time":"2026-05-31T04:08:43Z","timestamp":1780200523000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Pallister\u2013Killian Syndrome in a Newborn"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-6066-8985","authenticated-orcid":false,"given":"Giulia","family":"Di Donato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7314-3879","authenticated-orcid":false,"given":"Chiara","family":"Cauzzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7840-4253","authenticated-orcid":false,"given":"Paola","family":"Cicioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0682-3155","authenticated-orcid":false,"given":"Teresa","family":"Topazio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0555-2173","authenticated-orcid":false,"given":"Valentina","family":"Chiavaroli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3927-6277","authenticated-orcid":false,"given":"Chiara Palka Bayard De","family":"Volo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8578-3926","authenticated-orcid":false,"given":"Elisena","family":"Morizio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3724-1495","authenticated-orcid":false,"given":"Francesco","family":"Chiarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0686-9599","authenticated-orcid":false,"given":"Susanna Di","family":"Valerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,30]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-018-0395-z"},{"key":"e_1_2_11_2_2","first-page":"103","article-title":"The Pallister Mosaic Syndrome","volume":"13","author":"Pallister P. D.","year":"1977","journal-title":"Birth Defects: Original Article Series"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00416.x"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/a-0781-2564"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.122"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35722"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102877"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31423"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240404"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35726"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.342"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5030"},{"key":"e_1_2_11_13_2","doi-asserted-by":"crossref","first-page":"194","DOI":"10.12659\/AJCR.890614","article-title":"Pallister-Killian Syndrome","volume":"15","author":"Srinivasan A.","year":"2014","journal-title":"American Journal of Case Reports"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2019.39.2.232"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-019-0449-x"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0142-7"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.939"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2017.37.1.66"},{"key":"e_1_2_11_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32767"},{"key":"e_1_2_11_20_2","first-page":"94","article-title":"Exclusion of Chromosomal Mosaicism: Tables of 90%, 95% and 99% Confidence Limits and Comments on Use","volume":"29","author":"Hook E. B.","year":"1977","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_11_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13381"},{"key":"e_1_2_11_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.16853"},{"key":"e_1_2_11_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40499"},{"key":"e_1_2_11_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37815"},{"key":"e_1_2_11_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.019"},{"key":"e_1_2_11_26_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12060811"},{"key":"e_1_2_11_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.03.003"},{"key":"e_1_2_11_28_2","doi-asserted-by":"publisher","DOI":"10.1177\/1971400917744798"},{"key":"e_1_2_11_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.351"},{"key":"e_1_2_11_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.02.009"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/8819010","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/8819010","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/8819010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,31]],"date-time":"2026-05-31T04:08:52Z","timestamp":1780200532000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/8819010"}},"subtitle":[],"editor":[{"given":"Richa","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/8819010"],"URL":"https:\/\/doi.org\/10.1155\/crig\/8819010","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2024-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8819010"}}