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Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3→pter) and Partial Monosomy 13q (13q33.3→qter) Associated With Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly

✍ Scribed by Chih-Ping Chen; Ming Chen; Yi-Ning Su; Fuu-Jen Tsai; Schu-Rern Chern; Chin-Yuan Hsu; Pei-Chen Wu; Dai-Dyi Town; Dong-Jay Lee; Gwo-Chin Ma; Wayseen Wang

Book ID: 117697483
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 616 KB
Volume: 49
Category: Article
ISSN: 1028-4559
DOI: 10.1016/s1028-4559(10)60068-x

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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