{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T12:14:07Z","timestamp":1785500047807,"version":"3.56.0"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>1p36 deletion syndrome is a well\u2010described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battaglia et al., \u201cbirth history was notable in 50% of the cases for varying degrees of perinatal distress.\u201d Given the potential for perinatal distress, seizures and PVL, we questioned if this disorder has clinical overlap with hypoxic ischemic encephalopathy (HIE). We reviewed the medical records of 69 individuals with 1p36 deletion to clarify the perinatal phenotype of this disorder and determine if there is evidence of perinatal distress and\/or hypoxic injury. Our data provides evidence that these babies have signs of perinatal distress. The majority (59% term; 75% preterm) needed resuscitation and approximately 18% had cardiac arrest. Most had abnormal brain imaging (84% term; 73% preterm) with abnormal white matter findings in over half of patients. PVL or suggestion of \u201chypoxic insult\u201d was present in 18% of term and 45% of preterm patients. In conclusion, individuals with 1p36 deletion have evidence of perinatal distress, white matter changes, and seizures, which can mimic HIE but are likely related to their underlying chromosome disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.61266","type":"journal-article","created":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T17:24:06Z","timestamp":1560792246000},"page":"1543-1546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8128-9261","authenticated-orcid":false,"given":"Lauren B.","family":"Carter","sequence":"first","affiliation":[{"name":"Stanford University  Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7128-7606","authenticated-orcid":false,"given":"Agatino","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athena","family":"Cherry","sequence":"additional","affiliation":[{"name":"Stanford University  Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie A.","family":"Manning","sequence":"additional","affiliation":[{"name":"Stanford University  Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura RZ","family":"Ruzhnikov","sequence":"additional","affiliation":[{"name":"Stanford University  Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"University of California San Diego and Rady Children's Hospital San Diego  San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8095-9793","authenticated-orcid":false,"given":"Leah","family":"Dowsett","sequence":"additional","affiliation":[{"name":"Kapi'olani Medical Center and University of Hawai'i  Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Cedars\u2010Sinai Medical Center  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais","family":"Hashem","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Beth","family":"Dinulos","sequence":"additional","affiliation":[{"name":"Dartmouth\u2010Hitchcock Medical Center  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Vallee","sequence":"additional","affiliation":[{"name":"Dartmouth\u2010Hitchcock Medical Center  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret P.","family":"Adam","sequence":"additional","affiliation":[{"name":"University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Glass","sequence":"additional","affiliation":[{"name":"University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7965-0326","authenticated-orcid":false,"given":"Anita E.","family":"Beck","sequence":"additional","affiliation":[{"name":"University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy A.","family":"Stevens","sequence":"additional","affiliation":[{"name":"University of Tennessee School of Medicine  Knoxville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carey","family":"McDougall","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Keena","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Peron","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit\u2010Epilepsy Center, San Paolo Hospital, Department of Health Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"},{"name":"Department of Pediatrics, Division of Medical Genetics University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4638-4663","authenticated-orcid":false,"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit\u2010Epilepsy Center, San Paolo Hospital, Department of Health Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9136-101X","authenticated-orcid":false,"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[{"name":"Spectrum Health Helen DeVos Children's Hospital"},{"name":"Michigan State University Department of Pediatrics and Human Development  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas P.","family":"Slavin","sequence":"additional","affiliation":[{"name":"Division of Clinical Cancer Genomics City of Hope  Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7639-411X","authenticated-orcid":false,"given":"Louanne","family":"Hudgins","sequence":"additional","affiliation":[{"name":"Stanford University  Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,17]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"American Academy of Pediatrics. (2015). Apgar Scores. Retrieved fromhttps:\/\/www.healthychildren.org\/English\/ages\u2010stages\/prenatal\/delivery\u2010beyond\/Pages\/Apgar\u2010Scores.aspx"},{"key":"e_1_2_8_3_1","unstructured":"Battaglia A. (2013). 1p36 Deletion Syndrome. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1191\/"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0929"},{"key":"e_1_2_8_5_1","first-page":"834","volume-title":"Nelson textbook of Pediatrics","author":"Carlo W. A.","year":"2016"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2016.00114"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-323-42876-7.00018-1"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-0934"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.02.033"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.106.3.e29"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-0899"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000276"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61266","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:25:02Z","timestamp":1694327102000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,17]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/ajmg.a.61266"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61266","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,17]]},"assertion":[{"value":"2019-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}