{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:08:36Z","timestamp":1753862916371,"version":"3.41.2"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trisomy 17 is a rare chromosomal disorder. Existing literature on the topic is limited and mostly refer to mosaic Trisomy 17 cases. Our report summarizes the 70\u2010day clinical course of a late preterm neonate with partial Trisomy 17p karyotype 46,XY,der(14)t(14;17)(p11.1;p11.2) dpat. Trisomy 17 due to unbalanced translocation is rare, and our case elaborates the clinical presentation with intestinal malfunction without any anatomical pathology and urethral diverticulum and the ethical dilemma in decision\u2010making. The male proband was born at 35\u2009weeks with antenatal findings of multiple neurological and other abnormalities such as cystic hygroma, absent corpus collosum, high riding third ventricle, absent cavum septum pellucidum, indented occiput, absent ductus venous, and intrauterine growth restriction. The postnatal findings included significant facial dysmorphisms with short palpebral fissures, hypertelorism, low set ears, micrognathia, hirsutism, and single palmar creases, central hypotonia, and hyperreflexia of upper limbs bilaterally. Genital\u2010urinary assessment revealed a urinary diverticulum and significantly underdeveloped scrotum with undescended testes. Infant had excessive irritability and resistance to sleep despite increasing doses of analgesia and sedation, and persistent respiratory and feeding difficulties. Enteral nutrition could not be established due to profuse and persistent diarrhea, necessitating use of total parenteral nutrition. Microarray assay exhibited a pathogenic copy number gain of approximately 21.4\u00a0Mb of chromosome region 17p13.3p11.2. Follow\u2010up chromosome analysis and FISH revealed an abnormal male karyotype with a derivative chromosome 14, resulting from an unbalanced translocation between the short arm of one chromosome 14 and the short arm of one chromosome 17, effectively resulting in trisomy 17p11.2. It was derived from a paternal balanced t(14;17)(p11.1;p11.2) as shown by chromosome analysis and FISH studies. The rarity of this chromosomal disorder contributed to difficulty with prognosis and led to bioethical dilemma regarding life\u2010sustaining measures and quality of life. Through shared decision\u2010making processes and in consideration of poor prognosis, parents decided to withdraw life\u2010sustaining care and the proband died at postnatal day of life 70.<\/jats:p>","DOI":"10.1002\/ccr3.6343","type":"journal-article","created":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T16:07:03Z","timestamp":1665072423000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0360-1034","authenticated-orcid":false,"given":"Melab","family":"Musabi","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Neonatal\u2010 Perinatal Medicine Western University London Ontario  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayman","family":"Saker","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Neonatal\u2010 Perinatal Medicine Western University London Ontario  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessi","family":"Baer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Neonatal\u2010 Perinatal Medicine Western University London Ontario  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Pediatric Surgery Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anahita","family":"Mohseni Meybodi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Western University  London Ontario Canada"},{"name":"Molecular Diagnostics Division London Health Sciences Centre  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Section of Genetics and Metabolism Western University London Ontario  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soume","family":"Bhattacharya","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Neonatal\u2010 Perinatal Medicine Western University London Ontario  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"issue":"1","key":"e_1_2_13_2_1","first-page":"25","article-title":"Trisomy 17p11\u2010pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus","volume":"4","author":"Lurie IW","year":"1995","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31330"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.10.819"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03492.x"},{"key":"e_1_2_13_6_1","unstructured":"McGowan\u2010JordanJ HastingRJ MooreS(2020).ISCN: an international system for human cytogenomic nomenclature karger."},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.01.002"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35996"},{"volume-title":"GeneReviews(\u00ae)","year":"1993","author":"Bird TD","key":"e_1_2_13_9_1"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.001"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2016.08.004"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097-0223(199811)18:11%3C1191::aid-pd417%3E3.0.co;2-x"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23582"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.8.502"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6343","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6343","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T02:04:02Z","timestamp":1692497042000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1002\/ccr3.6343"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6343","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2022,10]]},"assertion":[{"value":"2021-12-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6343"}}