羊水穿刺检查发现镶嵌性小额外标记染色体 1：产前诊断、分子遗传学分析及文献复习
Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.
机构信息
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.
出版信息
Gene. 2013 Oct 15;529(1):169-75. doi: 10.1016/j.gene.2013.07.048. Epub 2013 Aug 7.
We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.
我们提出了嵌合体小额外标记染色体 1 [sSMC(1)]的产前诊断和分子细胞遗传学分析。我们回顾了在羊膜穿刺术和 1p21.1-p12 重复综合征中 sSMC(1)的文献。我们讨论了在这种情况下涉及基因 ALX3、RBM15、NTNG1、SLC25A24、GPSM2、TBX15 和 NOTCH2 的基因型-表型相关性。
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