TY - JOUR A2 - Vogt, G. A2 - Fenger, M. A2 - Wang, X. AU - Mazzaschi, Roberto L. P. AU - Taylor, Juliet AU - Robertson, Stephen P. AU - Love, Donald R. AU - George, Alice M. PY - 2014 DA - 2014/03/17 TI - A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker SP - 597314 VL - 2014 AB - A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence 原位杂交和微阵列分析。类似特纳镶嵌标记染色体案件此前已文献报道，有一个变量表型，从温和的“经典”特纳综合征无脑畸形，胼胝体，复杂的心脏畸形的发育，以及手指和脚趾并指畸形。这种情况下，报告中有一个表型是与先前公布的情况下，主要是不和谐的，因为它坐落在特纳变异表型规模的严重结束。在这项研究中所观察到的细胞遗传学异常可表示巧合的发现，但是我们不能排除的是，标记物具有无功能的X染色体失活基因座，从而导致由标记携带这些基因的功能的二体性的可能性。SN - 2090-6544 UR - https://doi.org/10.1155/2014/597314 DO - 10.1155 /五十九万七千三百一十四分之二千〇一十四JF - 病例报告遗传学PB - Hindawi出版公司公司KW - ER -