{"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":1791999377138,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T00:00:00Z","timestamp":1364169600000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mosaic trisomy 22 is known to be compatible with life. However, there are fewer than 20 reports in the literature of live born children and even fewer reports describing their neurodevelopmental outcome. We report on two girls with mosaic trisomy 22 and normal development at ages 7 and 5 years. Both girls had characteristic dysmorphic features including flat nasal bridge, preauricular pits, epicanthic folds, and 5th finger clinodactyly. They also had left\u2010sided hemihyperplasia and short stature. In addition, one of them also had ventricular non\u2010compaction and probable asplenia, two unique features not previously reported. In review of the literature, prenatal and postnatal growth failures were the most common complications of mosaic trisomy 22. Skeletal abnormalities including body asymmetry and 5th finger clinodactyly were also common. While the majority of patients with mosaic trisomy 22 had abnormal cognitive development, normal development has also been documented. It is conceivable that children with trisomy 22 mosaicism, with minimal physical findings and normal development are under diagnosed. Our patients further highlight this potential for normal cognitive outcome and draw attention to possible skewing of unfavorable prognosis for the final developmental outcome in this population. Appropriate information regarding developmental outcome is critical for genetic counseling, especially in prenatal situations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35812","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T15:16:11Z","timestamp":1364224571000},"page":"1126-1131","source":"Crossref","is-referenced-by-count":20,"title":["Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature"],"prefix":"10.1002","volume":"161","author":[{"given":"Dalal","family":"Abdelgadir","sequence":"first","affiliation":[{"name":"Pediatric Residency Program McMaster University Hamilton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata J.M.","family":"Nowaczyk","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine McMaster University Hamilton Canada"},{"name":"Department of Pediatrics McMaster University Hamilton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chumei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University Hamilton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2008.05.012"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(01)01095-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<406::AID-AJMG7>3.0.CO;2-R"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199701)17:1<81::AID-PD29>3.0.CO;2-V"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.473"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30401"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33792"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1980.tb00955.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2427"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288802700908"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31866"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.2010.01278.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000123123.89795.fe"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590402"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200404000-00009"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274677"},{"key":"e_1_2_6_19_1","unstructured":"Statistics Canada.2008. The children of older first\u2010time mothers in Canada: Their health and development. Children and Youth Research Paper Series Catalogue number 89\u2010599\u2010M."},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1076\/opge.25.1.53.29004"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.190165"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32004"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230302"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.9.694"}],"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.35812","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35812","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:31:31Z","timestamp":1698629491000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35812"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,25]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35812"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35812","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,25]]}}}