{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:21:03Z","timestamp":1761218463171,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T00:00:00Z","timestamp":1645660800000},"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":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This is the first report of the concurrent development of long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency (LCHADD) and Crigler\u2013Najjar syndrome type 1 (CNs1) inherited via uniparental disomy of chromosome 2, which are both autosomal recessive pathologies. Through an expanded newborn metabolic panel, a male infant was identified as having an acylcarnitine pattern typical for LCHADD, later confirmed to be caused by a well\u2010characterized pathogenic variant in the <jats:italic>HADHA<\/jats:italic> gene located at 2p23. Prolonged non\u2010hematologic jaundice requiring repetitive phototherapy prompted further genetic analysis, leading to the identification of another genetic abnormality consistent with CNs1, which was caused by a novel pathogenic variant in the <jats:italic>UGT1A1<\/jats:italic> gene located at 2q37. The two identified point mutations in chromosome 2 were homozygous and present on separate arms, which indicated potential uniparental disomy. Microarray analysis of the genetic material from the patient and his parents confirmed paternal isodisomy of chromosome 2. Further studies are needed to identify other possible pathogenic variants located on the same defective chromosome, evaluate the combined effect of the two metabolic abnormalities, and plan the best possible treatment and care.<\/jats:p>","DOI":"10.1002\/ajmg.a.62696","type":"journal-article","created":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T09:53:59Z","timestamp":1645696439000},"page":"1848-1852","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of <scp>Crigler\u2013Najjar<\/scp> syndrome type I and long\u2010chain <scp>3\u2010hydroxyacyl\u2010CoA<\/scp> dehydrogenase deficiency"],"prefix":"10.1002","volume":"188","author":[{"given":"Anna","family":"Knapp","sequence":"first","affiliation":[{"name":"Department of Pediatrics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mateusz","family":"Jag\u0142a","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Madetko\u2010Talowska","sequence":"additional","affiliation":[{"name":"University Children Hospital in Krakow  Krakow Poland"},{"name":"Department of Medical Genetics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Szewczyk","sequence":"additional","affiliation":[{"name":"University Children Hospital in Krakow  Krakow Poland"},{"name":"Department of Medical Genetics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teofila","family":"Ksi\u0105\u017cek","sequence":"additional","affiliation":[{"name":"University Children Hospital in Krakow  Krakow Poland"},{"name":"Department of Medical Genetics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Ko\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3017-0348","authenticated-orcid":false,"given":"Przemko","family":"Kwinta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chair of Pediatrics Jagiellonian University Medical College  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,24]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Agilent CytoGenomics.Software A Complete Solution for Cytogenetic Research Data Analysis. 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