{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:36:17Z","timestamp":1791999377101,"version":"4.4.0"},"reference-count":75,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T00:00:00Z","timestamp":1709856000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose\/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.<\/jats:p>","DOI":"10.3390\/genes15030346","type":"journal-article","created":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T10:10:52Z","timestamp":1709892652000},"page":"346","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9566-4971","authenticated-orcid":false,"given":"Valentina","family":"Trevisan","sequence":"first","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"},{"name":"Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8428-7162","authenticated-orcid":false,"given":"Anna","family":"Meroni","sequence":"additional","affiliation":[{"name":"Human Genetics, Molecular Medicine Department, University of Pavia and IRCCS Fondazione Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Human Genetics, Molecular Medicine Department, University of Pavia and IRCCS Fondazione Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3795-1972","authenticated-orcid":false,"given":"Davide","family":"Politano","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, IRCCS Mondino, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9555-916X","authenticated-orcid":false,"given":"Giacomo","family":"Fiandrino","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Anatomic Pathology Unit, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7448-8710","authenticated-orcid":false,"given":"Valentina","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7032-7779","authenticated-orcid":false,"given":"Donato","family":"Rigante","sequence":"additional","affiliation":[{"name":"Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy"},{"name":"Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucrezia","family":"Perri","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5646-7406","authenticated-orcid":false,"given":"Elisabetta","family":"Sforza","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1697-6337","authenticated-orcid":false,"given":"Germana","family":"Viscogliosi","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Contaldo","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Orteschi","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy"},{"name":"Genetic Unit, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Proietti","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"},{"name":"Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1002\/pd.2427","article-title":"Mosaic trisomy 22: Five new cases with variable outcomes. Implications for genetic counselling and clinical management","volume":"30","author":"Leclercq","year":"2010","journal-title":"Prenat. Diagn."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1038\/s41436-020-0877-3","article-title":"A six-attribute classification of genetic mosaicism","volume":"22","author":"Tenorio","year":"2020","journal-title":"Genet. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF00274675","article-title":"Incomplete trisomy 22. I. Familial 11\/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families","volume":"56","author":"Schinzel","year":"1981","journal-title":"Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.7863\/jum.2003.22.11.1271","article-title":"Second-trimester sonographic findings in trisomy 22: Report of 3 cases and review of the literature","volume":"22","author":"Sepulveda","year":"2003","journal-title":"J. Ultrasound Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1136\/jmg.31.9.694","article-title":"Asymmetry and skin pigmentary anomalies in chromosome mosaicism","volume":"31","author":"Woods","year":"1994","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1111\/j.1447-0756.2010.01278.x","article-title":"Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues","volume":"36","author":"Mazza","year":"2010","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1002\/ajmg.a.35812","article-title":"Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature","volume":"161","author":"Abdelgadir","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/ajmg.a.30401","article-title":"Mosaic trisomy 22: Report of a patient with normal intelligence","volume":"132A","author":"Florez","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/(SICI)1097-0223(199701)17:1<81::AID-PD29>3.0.CO;2-V","article-title":"Maternal Uniparental Disomy for Chromosome 22 in a Child with Generalized Mosaicism for Trisomy 22","volume":"17","author":"Bogaard","year":"1997","journal-title":"Prenat. Diagn."},{"key":"ref_10","first-page":"105906","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"10","author":"Page","year":"2021","journal-title":"BMJ Syst. Rev."},{"key":"ref_11","unstructured":"National Library of Medicine (U.S.) (2024, January 24). National Library of Medicine Programs and Services, Available online: https:\/\/medlineplus.gov\/."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1002\/ajmg.1320230302","article-title":"Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata","volume":"23","author":"Wertelecki","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.ejmg.2016.07.001","article-title":"Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability","volume":"59","author":"Naoufal","year":"2016","journal-title":"Eur. J. Med. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Nardelli, A., Laskoski, L.V., Luiz, A.F., Silveira, M.A.D., and D\u2019arce, L.P.G. (2023). Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis. BMC Med. Genom., 16.","DOI":"10.1186\/s12920-023-01709-2"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1136\/jmg.18.6.473","article-title":"Unilateral radial aplasia and trisomy 22 mosaicism","volume":"18","author":"Dulitzky","year":"1981","journal-title":"J. Med. Genet."},{"key":"ref_16","first-page":"197","article-title":"A case of 22-trisomy mosaic","volume":"18","author":"Osztovics","year":"1977","journal-title":"Acta Paediatr. Acad. Sci. Hung."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1002\/pd.1970090911","article-title":"Trisomic 22 placenta in a case of severe intrauterine growth retardation","volume":"9","author":"Stioui","year":"1989","journal-title":"Prenat. Diagn."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/S0002-9378(96)70312-5","article-title":"Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling","volume":"174","author":"Phillips","year":"1996","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/(SICI)1097-0223(199804)18:4<384::AID-PD263>3.0.CO;2-4","article-title":"Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling","volume":"18","author":"Berghella","year":"1998","journal-title":"Prenat. Diagn."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/pd.260","article-title":"A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus","volume":"22","author":"Bryan","year":"2002","journal-title":"Prenat. Diagn."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1002\/ajmg.a.32004","article-title":"Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy","volume":"143A","author":"Wang","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.tjog.2019.07.020","article-title":"Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review","volume":"58","author":"Chen","year":"2019","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Minella, C., Jeandidier, E., Koch, A., Antal, M.C., Favre, R., Sananes, N., and Weingertner, A.-S. (2023). Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases. Fetal Diagn. Ther., 1\u201313.","DOI":"10.1159\/000534619"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/pd.588","article-title":"Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks","volume":"23","author":"Cicero","year":"2003","journal-title":"Prenat. Diagn."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/uog.5299","article-title":"A mixture model of nuchal translucency thickness in screening for chromosomal defects","volume":"31","author":"Wright","year":"2008","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1148\/radiology.181.1.1887021","article-title":"In utero analysis of fetal growth: A sonographic weight standard","volume":"181","author":"Hadlock","year":"1991","journal-title":"Radiology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1097\/MPG.0b013e3181da213e","article-title":"Neonatal Anthropometric Charts: The Italian Neonatal Study Compared with Other European Studies","volume":"51","author":"Bertino","year":"2010","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_28","unstructured":"(2024, January 31). Growth Charts. 4 April 2023, Available online: https:\/\/www.cdc.gov\/growthcharts\/index.htm."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1097\/01.GIM.0000160075.96707.04","article-title":"Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study","volume":"7","author":"Menasha","year":"2005","journal-title":"Genet. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3187","DOI":"10.1002\/ajmg.a.36778","article-title":"Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature","volume":"164","author":"Kehinde","year":"2014","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1093\/humupd\/dmab009","article-title":"Confined placental mosaicism and the association with pregnancy outcome and fetal growth: A review of the literature","volume":"27","author":"Eggenhuizen","year":"2021","journal-title":"Hum. Reprod. Update"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1159\/000357430","article-title":"First-Trimester Screening for Trisomies 21, 18 and 13 by Ultrasound and Biochemical Testing","volume":"35","author":"Wright","year":"2014","journal-title":"Fetal Diagn. Ther."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.siny.2013.11.013","article-title":"A historical and practical review of first trimester aneuploidy screening","volume":"19","author":"Russo","year":"2014","journal-title":"Semin. Fetal Neonatal Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1136\/bmj.304.6831.867","article-title":"Fetal nuchal translucency: Ultrasound screening for chromosomal defects in first trimester of pregnancy","volume":"304","author":"Nicolaides","year":"1992","journal-title":"BMJ"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1002\/pd.6024","article-title":"Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents?","volume":"41","author":"Kelley","year":"2021","journal-title":"Prenat. Diagn."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1002\/uog.22095","article-title":"Isolated, persisting, large choroid plexus cysts should warrant neurosonographic follow-up","volume":"57","author":"Paladini","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/BF00274677","article-title":"Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22","volume":"56","author":"Schinzel","year":"1981","journal-title":"Hum. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1016\/0003-4975(95)00098-6","article-title":"Pharmacologic support with high-energy phosphate preservation in the postischemic neonatal heart","volume":"59","author":"Pridjian","year":"1995","journal-title":"Ann. Thorac. Surg."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e22663","DOI":"10.1002\/jcla.22663","article-title":"Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report","volume":"33","author":"Kalayinia","year":"2019","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"174","DOI":"10.4038\/sljch.v47i2.8488","article-title":"Confirmation of mosaic trisomy 22 in an infant with failure to thrive","volume":"47","author":"Dayasiri","year":"2018","journal-title":"Sri Lanka J. Child Heal."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/ajmg.c.31760","article-title":"Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations","volume":"184","author":"Lin","year":"2020","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_42","unstructured":"Abuhamad, A.Z., and Chaoui, R. (2012). A Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts, Lippincott Williams & Wilkins."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/uog.19193","article-title":"Perinatal changes in cardiac geometry and function in growth-restricted fetuses at term","volume":"53","author":"Patey","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00019605-200404000-00009","article-title":"Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect","volume":"13","author":"Ruiter","year":"2004","journal-title":"Clin. Dysmorphol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1177\/000992288802700908","article-title":"Trisomy 22 Mosaicism with Normal Blood Chromosomes. Case report with literature review","volume":"27","author":"Lessick","year":"1988","journal-title":"Clin. Pediatr."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/ajmg.a.33792","article-title":"Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH","volume":"155","author":"Fruhman","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/ajmg.1320590402","article-title":"Goldenhar sequence and mosaic trisomy 22","volume":"59","author":"Pridjian","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1076\/opge.25.1.53.29004","article-title":"Ocular manifestations of mosaic trisomy 22: A case report and review of the literature","volume":"25","author":"Thomas","year":"2004","journal-title":"Ophthalmic Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1111\/j.1651-2227.1990.tb11543.x","article-title":"Trisomy 22 Mosaicism Limited to Skin Fibroblasts in a Mentally Retarded, Dysmorphic Girl","volume":"79","author":"Lund","year":"1990","journal-title":"Acta Paediatr. Scand."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<406::AID-AJMG7>3.0.CO;2-R","article-title":"Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes","volume":"71","author":"Crowe","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1016\/j.jpedsurg.2008.05.012","article-title":"Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy","volume":"43","author":"Allotey","year":"2008","journal-title":"J. Pediatr. Surg."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.14.3.224","article-title":"Trisomy 22 mosaicism","volume":"14","author":"Mollica","year":"1977","journal-title":"J. Med. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0003-3995(01)01095-4","article-title":"A rare case: Mosaic trisomy 22","volume":"44","author":"Basaran","year":"2001","journal-title":"Ann. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1016\/j.jpedsurg.2008.09.032","article-title":"Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation","volume":"44","author":"Hall","year":"2009","journal-title":"J. Pediatr. Surg."},{"key":"ref_55","first-page":"191","article-title":"Diagnostic and Statistical Manual of Mental Disorders (DSM)","volume":"25","author":"Battle","year":"2013","journal-title":"Codas"},{"key":"ref_56","unstructured":"Khan, I., and Leventhal, B.L. (2023). StatPearls, StatPearls Publishing."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Jansen, S., Vissers, L.E.L.M., and de Vries, B.B.A. (2023). The Genetics of Intellectual Disability. Brain Sci., 13.","DOI":"10.3390\/brainsci13020231"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1097\/01.mcd.0000123123.89795.fe","article-title":"Neuroblastoma, maternal valproic acid use, in-vitro fertilization and family history of mosaic chromosome 22: Coincidence or causal relationship?","volume":"13","author":"Merks","year":"2004","journal-title":"Clin. Dysmorphol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/BF00446075","article-title":"\u201cPartial trisomy 22 and 11\u201d due to a paternal 11;22 translocation associated with hirschsprung disease","volume":"145","author":"Beedgen","year":"1986","journal-title":"Eur. J. Pediatr."},{"key":"ref_60","first-page":"48","article-title":"Update on Etiology and Pathogenesis of Biliary Atresia","volume":"19","author":"Quelhas","year":"2022","journal-title":"Curr. Pediatr. Rev."},{"key":"ref_61","first-page":"311","article-title":"Trisomy 22 with thyroid isthmus agenesis and absent gall bladder","volume":"15","author":"Gangbo","year":"2004","journal-title":"Genet. Couns."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/4.suppl_1.1757","article-title":"Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis","volume":"4","author":"Ledbetter","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1007\/s10897-014-9751-2","article-title":"Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients","volume":"23","author":"Sdano","year":"2014","journal-title":"J. Genet. Couns."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1002\/ajmg.a.31539","article-title":"Detection of low-level mosaicism by array CGH in routine diagnostic specimens","volume":"140","author":"Ballif","year":"2006","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1093\/hmg\/ddq003","article-title":"Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis","volume":"19","author":"Conlin","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ajmg.a.32729","article-title":"The phenotype of persons having mosaicism for trisomy 21\/Down syndrome reflects the percentage of trisomic cells present in different tissues","volume":"149A","author":"Papavassiliou","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/uog.14636","article-title":"Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: A systematic review and meta-analysis","volume":"45","author":"Akolekar","year":"2015","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_69","first-page":"21","article-title":"Maternal uniparental disomy 22 has no impact on the phenotype","volume":"54","author":"Schinzel","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/s41598-023-50584-5","article-title":"Contribution of uniparental disomy to fetal growth restriction: A whole-exome sequencing series in a prenatal setting","volume":"14","author":"Li","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1002\/pd.1534","article-title":"The association between preeclampsia and placental trisomy 16 mosaicism","volume":"26","author":"Yong","year":"2006","journal-title":"Prenat. Diagn."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1007\/s11910-018-0862-2","article-title":"Neurologic Consequences of Preterm Birth","volume":"18","author":"Ream","year":"2018","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_73","unstructured":"Smith, A.E., Shah, M., and Badireddy, M. (2023). StatPearls, StatPearls Publishing."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1159\/000346189","article-title":"Live-Born Trisomy 22: Patient Report and Review","volume":"3","author":"Heinrich","year":"2012","journal-title":"Mol. Syndr."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1002\/acn3.51484","article-title":"Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI","volume":"8","author":"Romaniello","year":"2021","journal-title":"Ann. Clin. Transl. Neurol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/3\/346\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:11:00Z","timestamp":1760105460000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/3\/346"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,8]]},"references-count":75,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["genes15030346"],"URL":"https:\/\/doi.org\/10.3390\/genes15030346","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,8]]}}}