{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T06:52:41Z","timestamp":1776754361485,"version":"3.51.2"},"reference-count":67,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,11,19]],"date-time":"2014-11-19T00:00:00Z","timestamp":1416355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q\u2010, 18p\u2010, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the <jats:italic>TCF4<\/jats:italic> gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post\u2010high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long\u2010term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.<\/jats:p>","DOI":"10.1007\/s10897-014-9793-5","type":"journal-article","created":{"date-parts":[[2014,11,21]],"date-time":"2014-11-21T15:54:03Z","timestamp":1416585243000},"page":"663-674","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Adults with Chromosome 18 Abnormalities"],"prefix":"10.1002","volume":"24","author":[{"given":"Bridgette","family":"Soileau","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minire","family":"Hasi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtney","family":"Sebold","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annice","family":"Hill","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"O'Donnell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"},{"name":"Department of Psychiatry University of Texas Health Science Center at San Antonio San Antonio TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel E.","family":"Hale","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jannine D.","family":"Cody","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio TX USA"},{"name":"The Chromosome 18 Registry &amp; Research Society San Antonio TX USA"},{"name":"Department of Pediatrics, Chromosome 18 Clinical Research Center UT Health Science Center MSC 7820, 7703 Floyd Curl Drive San Antonio TX 78229 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460409"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0009-7"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20391"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.86201"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.144"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03054.x"},{"issue":"12","key":"e_1_2_6_8_1","first-page":"716","article-title":"[Pituitary dwarfism and \u201cgoldenhar type = multiple deformities in a patient with deletion of the short arm of chromosome 18](article in Italian)","volume":"29","author":"Buffoni L.","year":"1976","journal-title":"Minerva Pediatrica"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472190"},{"key":"e_1_2_6_10_1","first-page":"493","article-title":"The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization","volume":"47","author":"Callen D. 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