TY - JOUR
T1 - Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption
T2 - A case report and literature review
AU - Su, Mei Tsz
AU - Liang, Yu Ling
AU - Chen, Jian Chin
AU - Sun, H. Sunny
AU - Chang, Fong Ming
AU - Kuo, Pao Lin
PY - 2013/4
Y1 - 2013/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84875894234&partnerID=8YFLogxK
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U2 - 10.1016/j.ejmg.2013.01.010
DO - 10.1016/j.ejmg.2013.01.010
M3 - Article
C2 - 23395980
AN - SCOPUS:84875894234
SN - 1769-7212
VL - 56
SP - 197
EP - 201
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 4
ER -