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Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation

✍ Scribed by Hu, Hua; Hao, Jia; Yao, Hong; Chang, Qing; Li, Rui; Zhang, Xiaohang; Liang, Zhiqing


Book ID
123360056
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
583 KB
Volume
517
Category
Article
ISSN
0378-1119

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Prenatal diagnosis of partial trisomy 3p
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We report the prenatal diagnosis of partial trisomy 3p(3p23<pter) and monosomy 7q(7q36<qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine