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Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints

✍ Scribed by Chen, Chih-Ping; Chang, Yao-Lung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Wen-Lin; Chen, Li-Feng; Wang, Wayseen


Book ID
122359372
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
998 KB
Volume
516
Category
Article
ISSN
0378-1119

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Prenatal diagnosis of partial trisomy 3p
✍ Chih-Ping Chen; Koenraad Devriendt; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang; Ta 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

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