Department of Obstetrics and Gynecology, Mackay Memorial Hospital, and Institute of Clinical and Community Health Nursing, Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Gene. 2013 Apr 25;519(1):164-8. doi: 10.1016/j.gene.2013.01.055. Epub 2013 Feb 9.
We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case.
我们通过使用未培养的羊水细胞，通过 aCGH 快速诊断出患有 IUGR、小头畸形、无脑回畸形和外生殖器模糊的胎儿存在 2 号染色体环状结构，其 2p25.3 和 2q37.3 存在微缺失。本病例将无脑回畸形添加到 2p25.3 和 2q37.3 微缺失的 2 号染色体环状结构的中枢神经系统异常列表中。我们讨论了 2q37.3 上的 HDAC4、KIF1A、PASK、HDLBP、FRAP2 和 D2HGDH 单倍不足以及 2p25.3 上的 MYT1L、SNTG2 和 TPO 单倍不足对本病例的影响。
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