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I report on an additional case of a male fetus with a mosaic male karyotype mos 46,X,der(Y)t(Y;1)(q12;q21)[31]\/46,XY[21] and multiple anomalies that included \u201cteardrop\u201d\u2010shaped head with a triangular face, a short\u2010nasal bridge with upturned nose, microretrognathia, microtia, kyphoscoliosis, oligodactyly, syndactyly, joint contractures, CNS malformation, omphalocele, diaphragmatic hernia, cardiac anomaly, and urogenital malformation. The findings together suggest a recurrent and recognizable syndrome and argue for using tissues such as skin or cartilage or amniotic fluid, instead of cord blood, for postmortem karyotyping in order to avoid missing mosaicism as a potential cause of multiple congenital anomalies. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33588","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T22:18:33Z","timestamp":1280873913000},"page":"2339-2341","source":"Crossref","is-referenced-by-count":8,"title":["A prenatally recognizable malformation syndrome associated with a recurrent post\u2010zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)"],"prefix":"10.1002","volume":"152A","author":[{"given":"Chumei","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20266"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(08)60099-6"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.847"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2009.12.029"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20321"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920206779116756"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-26"},{"key":"e_1_2_5_9_1","first-page":"A129","article-title":"Prenatal detection of mosaic t(Y:1) in a fetus with anencephaly and an omphalocele","volume":"61","author":"Kaufman H","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058016"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1586\/erm.09.17"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0702924104"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/JPN.0b013e3181a3b4e5"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32959"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30940"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32986"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.06.002"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2460"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4A6424.2005"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-199011000-00056"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20189"}],"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.33588","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33588","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:00:57Z","timestamp":1697608857000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,3]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/ajmg.a.33588"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33588","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,3]]}}}