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

作者：Su Mei Tsz; Liang Yu Ling; Chen Jian Chin; Sun H Sunny; Chang Fong Ming; Kuo Pao Lin^*

来源：European Journal of Medical Genetics, 2013, 56(4): 197-201.

DOI：10.1016/j.ejmg.2013.01.010

• Trisomy 16
• Asplenia syndrome
• Placenta abruption
• Congenital heart disease
• Limb deformity

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.

• 出版日期2013-4