| Literature DB >> 23395980 |
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.Entities:
Mesh:
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