Literature DB >> 23395980

Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: a case report and literature review.

Mei-Tsz Su1, Yu-Ling Liang, Jian-Chin Chen, H Sunny Sun, Fong-Ming Chang, Pao-Lin Kuo.   

Abstract

Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome.
Copyright © 2013 Elsevier Masson SAS. All rights reserved.

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Year:  2013        PMID: 23395980     DOI: 10.1016/j.ejmg.2013.01.010

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  2 in total

1.  Intrauterine growth retardation fetus with trisomy 16 mosaicism.

Authors:  Takol Chareonsirisuthigul; Suchin Worawichawong; Rachanee Parinayok; Patama Promsonthi; Budsaba Rerkamnuaychoke
Journal:  Case Rep Genet       Date:  2014-05-14

2.  The significance of trisomy 7 mosaicism in noninvasive prenatal screening.

Authors:  Yiming Qi; Jiexia Yang; Yaping Hou; Fangfang Guo; Haishan Peng; Dongmei Wang; Qianyi Du; Aihua Yin
Journal:  Hum Genomics       Date:  2019-04-11       Impact factor: 4.639

  2 in total

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