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

Mei-Tsz Su, Yu-Ling Liang, Jian Chin Chen, Hsiao-Fang Sun, Fong Ming Chang, Pao-Lin Kuo

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)197-201
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume56
Issue number4
DOIs
Publication statusPublished - 2013 Apr 1

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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