Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5907784 | Genomics | 2013 | 5 Pages |
Abstract
We present rapid aneuploidy diagnosis of distal 9p deletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with an abnormal maternal serum screening result and intrauterine growth restriction (IUGR) in the fetus. We review the literature of prenatal diagnosis of distal 9p deletion, and add abnormal maternal serum biochemistry and fetal IUGR in the distinctive prenatal findings in pregnancy with fetal distal 9p deletion. We discuss the consequence of haploinsufficiency of DOCK8, KANK1, VLDLR and DMRT1 in this case.
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Authors
Chih-Ping Chen, Yi-Ning Su, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang,