{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T08:52:49Z","timestamp":1793523169546,"version":"4.5.0"},"reference-count":38,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"content-version":"vor","delay-in-days":128,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Down syndrome (DS, trisomy 21) with an extra copy of chromosome 21 is one of the most common aneuploidies in humans. Jacobs syndrome or XYY syndrome (trisomy XYY) with an extra copy of sex chromosome Y is a rare sex chromosome trisomy in males. Double aneuploidy (DA) with an extra copy of chromosome 21 and sex chromosome Y is an extremely rare occurrence. Most trisomy 21 results from nondisjunction during maternal oocyte meiosis-I, whereas trisomy XYY is results from nondisjunction during paternal spermatocyte meiosis-I. We present a case of natural conception premature newborn of 30.4 weeks gestational age who had a DS facial phenotype with extensive syndactyly on both hands and feet. Other multisystem congenital anomalies were discovered, including mal-aligned perimembranous ventricular septal defect, bicuspid aortic valve, Dandy\u2013Walker malformation's tetra-ventriculomegaly, and a rare complete tracheal rings deformity (CTRD) with trachea stenosis. Prenatal amniocentesis and postnatal chromosomal karyotyping analysis detected 48, XYY,\u2009+\u200921 nontranslocation trisomy 21, and free-lying Y chromosome without translocation. The existence of DA is rarely reported in literature reviews. In this review, we will discuss the characteristics of DS and Jacobs syndrome as well as the associated multiorgan malformation including the rare lethal CTRD.<\/jats:p>","DOI":"10.1055\/s-0043-1774728","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T23:40:01Z","timestamp":1699314001000},"page":"e53-e60","source":"Crossref","is-referenced-by-count":4,"title":["Double Aneuploidy of Down Syndrome (Trisomy 21) and Jacobs Syndrome (Trisomy XYY) with Complete Tracheal Rings Deformity: Case Report and Literature Review"],"prefix":"10.1055","volume":"13","author":[{"given":"Omoloro","family":"Adeleke","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussein","family":"Elmufti","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pathology, Department of Pathology, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhuvaneshwari","family":"Jagadesan","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1864-5897","authenticated-orcid":false,"given":"Mimily","family":"Harsono","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/35066065","article-title":"To err (meiotically) is human: the genesis of human aneuploidy","volume":"2","author":"T Hassold","year":"2001","journal-title":"Nat Rev Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.semcdb.2022.01.007","article-title":"Maternal selection of human embryos in early gestation: insights from recurrent 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Sood"},{"issue":"01","key":"ref28","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1159\/000109231","article-title":"Prenatal diagnosis of sex chromosome abnormalities: the 8-year experience of a single medical center","volume":"23","author":"Z Vaknin","year":"2008","journal-title":"Fetal Diagn Ther"},{"issue":"04","key":"ref29","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/j.jpeds.2013.05.037","article-title":"47,XYY syndrome: clinical phenotype and timing of ascertainment","volume":"163","author":"M Z Bardsley","year":"2013","journal-title":"J Pediatr"},{"issue":"05","key":"ref30","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/ppul.25203","article-title":"Tracheal anomalies associated with Down syndrome: a systematic review","volume":"56","author":"M M Fockens","year":"2021","journal-title":"Pediatr 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