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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Su MT,Liang YL,Chen JC,Sun HS,Chang FM,Kuo PL

doi

10.1016/j.ejmg.2013.01.010

subject

Has Abstract

pub_date

2013-04-01 00:00:00

pages

197-201

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(13)00030-X

journal_volume

56

pub_type

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