Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Genomics. 2013 Oct;102(4):265-9. doi: 10.1016/j.ygeno.2013.08.003. Epub 2013 Aug 24.
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.
我们通过使用未培养的羊水细胞进行阵列比较基因组杂交，快速诊断出与异常母体血清筛查结果和胎儿宫内生长受限（IUGR）相关的妊娠中的远端 9p 缺失。我们回顾了远端 9p 缺失的产前诊断文献，并在具有胎儿远端 9p 缺失的妊娠中添加了异常的母体血清生化和胎儿 IUGR。我们讨论了在此病例中 DOCK8、KANK1、VLDLR 和 DMRT1 单倍体不足的后果。
