{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:42:36Z","timestamp":1791502956904,"version":"4.3.4"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T00:00:00Z","timestamp":1237161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To investigate a potential \u201cthreshold\u201d effect due to trisomic imbalance, lymphocyte and buccal mucosa nuclei were scored using FISH. Overall, buccal cells showed a significantly higher frequency of trisomy than lymphocytes (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009&lt;\u20090.0001). Using latent class analysis, two phenotypic classes were identified based on the clinical findings of the propositi. Patients from class 1 had significantly fewer traits and a lower percentage of trisomic cells (mean of 37.3% lymphocytes; 34.5% buccal mucosa cells) when compared to those stratified into class 2 (54.0% lymphocytes; 53.4% buccal mucosa cells). Tissue\u2010specific influences were also detected, with buccal mucosa trisomy levels being significantly correlated with IQ (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.0094; both ectodermal derivatives), while congenital heart defects were significantly correlated with lymphocytes (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.0286; both mesodermal embryonic derivatives). In conclusion, allowing for the distinction of two groups, we observed variation in phenotype, associated with the percentage of trisomic cells. We also observed tissue\u2010specific effects on phenotype. The results of this study should enable geneticists and other health care professionals to provide information regarding optimal diagnostic approaches and anticipated clinical outcomes. \u00a9 2009 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32729","type":"journal-article","created":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T15:08:47Z","timestamp":1237216127000},"page":"573-583","source":"Crossref","is-referenced-by-count":103,"title":["The phenotype of persons having mosaicism for trisomy 21\/Down syndrome reflects the percentage of trisomic cells present in different tissues"],"prefix":"10.1002","volume":"149A","author":[{"given":"Paulie","family":"Papavassiliou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy P.","family":"York","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurcan","family":"Gursoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Hill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren Vanner","family":"Nicely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha","family":"Sundaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"McClain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven H.","family":"Aggen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindon","family":"Eaves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brien","family":"Riley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Jackson\u2010Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"510","article-title":"In vitro incorporation of tritiated thymidine in oral homogeneous leukoplakias","volume":"80","author":"Alvares O","year":"1972","journal-title":"Scand J Dent Res"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580404"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<318::AID-AJMG7>3.0.CO;2-L"},{"key":"e_1_2_6_5_1","first-page":"207","article-title":"Protocols to establish genotype\u2010phenotype correlations in Down syndrome","volume":"49","author":"Epstein CJ","year":"1991","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090140116010"},{"key":"e_1_2_6_7_1","first-page":"345","article-title":"Mental development in Down syndrome mosaicism","volume":"96","author":"Fishler K","year":"1991","journal-title":"Am J Ment Retard"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1542\/peds.58.5.744","article-title":"Comparison of mental development in individuals with mosaic and trisomy 21 Down's syndrome","volume":"58","author":"Fishler K","year":"1976","journal-title":"Pediatrics"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(69)90033-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000129853"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/4772"},{"key":"e_1_2_6_12_1","first-page":"3","volume-title":"Trisomy 21 (Down syndrome): Research perspectives","author":"Hook EB","year":"1981"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<147::AID-AJMG5>3.0.CO;2-M"},{"key":"e_1_2_6_14_1","first-page":"852","article-title":"Intellectual, behavioral, and physical characteristics associated with trisomy, translocation, and mosaic types of Down's syndrome","volume":"73","author":"Johnson RC","year":"1969","journal-title":"Am J Ment Defic"},{"key":"e_1_2_6_15_1","first-page":"327","volume-title":"Human embryology","author":"Larsen WJ","year":"2001"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2004.06.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1977.tb01211.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(60)90138-5"},{"key":"e_1_2_6_19_1","volume-title":"Mplus: User's Guide","author":"Muth\u00e9n LK","year":"1998"},{"key":"e_1_2_6_20_1","first-page":"157","volume-title":"Thompson & Thompson: Genetics in Medicine","author":"Nussbam RL","year":"2001"},{"key":"e_1_2_6_21_1","first-page":"473","article-title":"Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis","volume":"54","author":"Pangalos C","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_22_1","unstructured":"PapavassiliouP.2007.Karyotype\u2010phenotype correlations for mosaic Down syndrome. Diss. Virginia Commonwealth University 2007. Ann Arbor: ProQuest UMI Dissertations Publishing 2008.AAT 3283127."},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1525"},{"key":"e_1_2_6_24_1","first-page":"66","article-title":"Mosaic mongolism","volume":"13","author":"Richards BW","year":"1969","journal-title":"J Ment Defic Res"},{"key":"e_1_2_6_25_1","first-page":"789","article-title":"The relationship between cytogenetic constitution, physical stigmata, and intelligence in Down's syndrome","volume":"72","author":"Shipe D","year":"1968","journal-title":"Am J Ment Defic"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/2191028a0"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/227163a0"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80369-9"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00159.x"},{"key":"e_1_2_6_30_1","first-page":"122","article-title":"Some characteristics of Mongoloids evaluated in a clinic for children with retarded mental development","volume":"62","author":"Wunsch WL","year":"1957","journal-title":"Am J Ment Defic"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32729","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32729","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:12:28Z","timestamp":1697587948000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32729"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32729"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32729","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}