16号染色体 （p11.1q11.2）异常可以要孩子吗
加菲21日310
怎么个异常呢,要是像21号染色体异常似的,…那建议不要了.若是染色体缺失,或是增加,那肯定不要,精卵结合,染色体联会时肯定异常.不过还是问问有关基因遗传方面的大夫去吧.
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16号染色体随体增加是染色体多态性表现的一种，对本人的健康和生育都无明显不良影响，注意调整好自己的心理状态不要背负任何心理负担，保持良好的生活习惯和正常的内分泌功能，注意避免已知的不良环境，在夫妻身体健康和内分泌功能良好的情况下可以考虑再试孕，在准备怀孕前可适当补充叶酸和维生素E，并保持情绪的稳定避免精神的紧张，相信一定会有一个健康的孩子。——仅供参考！！！...
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羊穿SNP显示16号染色体片段1.5Mb重复
状态：就诊前
希望提供的帮助：
1.这段dup的染色体段是否含有已知的致病基因？ 2.孩子这段重复比父亲的长，不是完全重合，这个是否并不是完全遗传？ 3.这个孩子是否能继续保留？如果后面还想要小孩是否有可能有完全正常基因的小孩？ 多谢
所就诊医院科室：
北医三院 产科
治疗情况：
医院科室：
治疗过程：无
检查资料：
&副主任医师
胎儿若完全和父亲一样的染色体片段重复，应该没问题，但不完全重复有变异，恐有一定的风险性，湖南湘雅医院，应该是我国重点遗传实验室中心，建议向知名遗传学专家咨询一下。
副主任医师
马瑞芝大夫通知通知:现在情况如何？是否有变化，请反馈给我。
大夫郑重提醒：因不能面诊患者，无法全面了解病情，以上建议仅供参考，具体诊疗请一定到医院在医生指导下进行！
状态：就诊前
现在各种检查包括第二次b超排畸，超声心动都暂时没有发现问题，一切都很正常。
&副主任医师
O K，祝顺！
1.扫码下载好大夫App
2.点击中的"免费咨询"描述病情
3.成功后，医生会在24小时之内回复
疾病名称：苯丙酮值2.7复查中&&
希望得到的帮助：请医生给我一些治疗上的建议
病情描述：潍坊的如果确诊，多少值一下不用吃特奶，复查需要几次能确诊
疾病名称：染色体&&
希望得到的帮助：请医生给我一些治疗上的建议
病情描述：请医生看看，以下染色体的报告是否正常？女性：46，XX
投诉类型：
投诉说明：（200个汉字以内）
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好大夫在线电话咨询服务染色体46,XX,t(9q;33;16q24)是什么意思，本人32岁，以后会有什么问题吗，能生小孩吗_百度知道上传用户：whpvbojveq资料价格：5财富值&&『』文档下载 ：『』&&『』学位专业：&关 键 词 ：&&&&&&权力声明：若本站收录的文献无意侵犯了您的著作版权，请点击。摘要:（摘要内容经过系统自动伪原创处理以避免复制，下载原文正常，内容请直接查看目录。）配景原发性肝癌是全球规模内最多见恶性肿瘤之一。比来的风行病学研讨注解，全球每一年约有62万新增病例，并且跟着全球化进一步加重，曩昔25年不只在成长中国度，在一些西蓬勃国度其病发率及逝世亡率也呈逐年上升之势。但其产生、成长及转移的内涵份子机理感化仍未很好说明，一向是肿瘤研讨范畴热门成绩。今朝，肿瘤份子遗传学研讨注解癌产生触及多个身分介入，个中遗传基因的变异是肿瘤产生症结身分，而癌基因的激活和(或)抑癌基因的的掉活起了相当症结感化，抑癌基因感化机制的研讨愈来愈遭到看重。比来多研讨中间发明在HCC组织中有染色体1p，1q，4q，6q，8p，10q，13q，14q，16q，17p和22q等区域存在杂合性高频丧失，而染色体特定部位产生杂合性丧失(LOH)等遗传变异惹起抑癌基因的掉活。因为染色体的微卫星位点存在地舆区域性差别，挑选出的染色体片断仍有待进一步准确，染色体遗传变异在HCC产生成长进程中的感化仍需深刻商量。目标经由过程对SNP6。0芯片挑选出的染色体8和16的部门基因及染色体片断上具有8个有高度多态性的微卫星位点杂合性丧失(LOH)状况研讨，剖析HCC上特定微卫星位点的LOH产生频率与HCC产生成长关系及其与临床病理特色之间的关系，以期初步挑选HCC相干的抑癌基因，为HCC的晚期诊断、份子分型及预后预警供给能够的新份子标志物。办法1、搜集肝细胞肝癌组织及癌旁对比组织病理标本45例，标本均有病理学检讨，并经两位资深病理学专家确诊。2、拔取SNP6。0基因芯片挑选出的染色体高频异常部位的8个微卫星多态性位点，分离是D8S261、D8S499、D8S1125、D8S1810、D8S1827、D16S402、D16S422、D16S511。根据GenBank数据库设计微卫星位点引物。3、采取聚合酶链反响一变性聚丙烯酰胺凝胶一银染法剖析各标本组织具有高度多态性微卫星位点杂合性丧失(LOH)的状况。并经由过程卡方磨练或Fisher’s确实几率磨练停止数据统计，商量其与临床病理特点之间的关系。成果1、LOH检测频率45例HCC组织的8个微卫星位点的LOH检出频率分离是 D8S261(39。02%，16/41)、D8S499(34。88%，15/43)、D8S%，4/26)、D8S%，8/41)、D8S%，4/41)、D16S402(19。04%，8/42)、D16S422(21。21%，7/33)、D16S511(53。33%，24/45)。个中在D16S511位点产生LOH频率最高，为53。33%(24/45)，顺次是D8S261(39。02%，16/41)和D8S499(34。88%，15/43)位点。一切HCC组织中发明至多一个位点产生LOH的总频率为68。89%(31/45)，个中未见在一切位点都涌现LOH的病例。2、LOH与HCC的临床病理特点的关系对肿瘤组织染色体8p、16q片断的8个高度多态性DNA微卫星位点停止杂合性丧失(LOH)频率剖析发明在病史、HBsAg沾染、血清AFP、肿瘤年夜小、分化水平、伴随肝硬化、肝内转移等临床病理目标中的总LOH散布频率无统计学差别；但个体位点存在差别。在D8S261位点，HBsAg阳性沾染患者LOH散布高于阴性者(P《0。028)；在D8S1810位点，伴随肝硬化者的LOH散布高于无肝硬化者(P《0。045)；在D16S511和D8S499位点，EdmondsonⅢ一Ⅳ级以上患者的LOH散布高于Ⅰ一Ⅱ级(分离为P《0。003，P《0。033)。结论1、本试验发明在D16S511、D8S261和D8S499位点上产生LOH频率较高，提醒在染色体16q23、8p12与8p22一21。3区域能够存在与HCC产生成长相干的潜伏抑癌基因，为下一步挑选新的抑癌基因供给了必定的新线索。2、特定位点的遗传变异LOH产生能够与HBsAg阳性沾染、肝硬化及病理分级等临床目标相干，指点临床晚期诊疗、份子分型及预后预警供给了新的实际根据。3、对HCC的某些染色体片断及部门基因区域能够存在的潜伏的抑癌基因的初探，为下一步对相干抑癌基因图谱停止准确定位，克隆出HCC相干抑癌基因并对其份子旌旗灯号通路、传导等机制方面停止深刻研讨供给了必定的实际根据。Abstract:Primary hepatocellular carcinoma is one of the most common malignant tumors in the world. Recent epidemiology research notes, global each year about 62 million new cases, and follow the globalization has further aggravated, in the past 25 years not only in developing countries, in some Xi Peng Bo country the disease hair rate and death rate also showed rising trend. But its production, development and transfer of the connotation of molecular mechanism has not been very good explanation, has always been a hot research area of cancer. At present, tumor molecular genetic research annotation cancer production involves multiple factors, genetic variation is the key factor in cancer, and cancer gene activation and (or) tumor suppressor gene out of play a very important role in the study of the mechanism of tumor suppressor gene is valued more and more. Centre for the study of more than invention in HCC tissues in chromosome 1p, 1q, 4q, 6q, 8p, 10q, 13q, 14q, 16q, 17p, and 22q, area are high frequency of loss of heterozygosity, and in certain parts of the chromosome have loss of heterozygosity (LOH) genetic mutations cause anti oncogene out live. Because of the difference between geographic regions of chromosome microsatellite loci, pick out the chromosomal fragment remains to be more accurate, the genetic variation of chromosome in HCC produce growth effect in the process still need to be deeply discussed. Target via process to SNP6. The 0 chip selected chromosomes 8 and 16 Department gene and chromosome fragments with eight highly polymorphic micro satellite loci miscellaneous lost (LOH) status of research, analysis of HCC specific micro satellite sites LOH frequency and HCC produce growth and its relationship with clinical and pathological characteristics and preliminary selection of HCC coherent anti oncogene, HCC is inchoate diagnose, the member of the sub type and prognosis of early warning of supply to the new member of the markers. Methods 1. 45 cases of hepatocellular carcinoma tissues and adjacent cancer tissues were collected. All of the cases were diagnosed by pathological examination. The diagnosis was confirmed by two senior pathology experts. 2, the use of SNP6. 0 gene chip selected chromosomal abnormal location of the high frequency of 8 microsatellite polymorphic loci, separation is D8S261, D8S499, D8S1125, D8S1810, D8S1827, D16S402, D16S422, D16S511. Design of microsatellite loci primers based on GenBank database. 3. To analyze the loss of heterozygosity (LOH) of each specimen by polymerase chain reaction (PCR) and silver staining method. And through the process of chi square test or Fisher 's does the probability of training to stop data statistics, to discuss its relationship with the clinical and pathological characteristics of the relationship between. Results 1, LOH detection frequency of 45 cases of HCC tissue of 8 microsatellite loci LOH detection frequency separation is D8S261 (39. 02%, (16/41), D8S499 (34). 88%, (15/43), D8S1125 (15). 38%, (4/26), D8S1810 (19). 51%, (8/41), D8S1827 (9). 76%, (4/41), D16S402 (19). 04%, (8/42), D16S422 (21). 21%, (7/33), D16S511 (53). 33%, 24/45). The highest frequency of LOH was found at the D16S511 locus, which was 53. 33% (24/45), which is D8S261 (39. 02% (16/41,) and D8S499 (34). 88%, 15/43) loci. The total frequency of LOH found in all HCC tissues was 68. 89% (31/45), there were no cases of LOH at all sites. 2, LOH and HCC clinical pathological characteristics of the relationship between the tumor tissue chromosome 16q, 8p fragment of 8 highly polymorphic DNA microsatellite loci stop loss of heterozygosity (LOH) frequency analysis of the invention in the medical history, HBsAg contamination, serum AFP, tumor size, differentiation, with cirrhosis, liver metastasis and other clinical pathological targets in the total LOH dispersion frequency no statistical difference, but there is a difference between the two positions. At the D8S261 locus, HBsAg positive patients with LOH were higher than the negative ones (P &0. (028) at the D8S1810 site, the LOH associated with cirrhosis were higher than those without cirrhosis (P 0. (045) in D16S511 and D8S499 sites, Edmondson III in patients with grade IV or above LOH spreading than I II grade (separated from P &0&). 003, P &0. 033). Conclusion 1, the invention of the invention in the D16S511, D8S261 and D8S499 loci on the LOH frequency is higher, to remind the chromosome 16q23, 8p12 and 8p22 a 21. Region 3 can exist and HCC have grown coherent latent anti oncogene, for a selection of new tumor suppressor genes provide a certain clue. 2, the specific location of the genetic variation of LOH can be associated with HBsAg positive infection, liver cirrhosis and pathological grading and other clinical targets, pointing to the clinical diagnosis and treatment, molecular typing and prognosis of early warning provided a new practical basis. 3, some chromosomal fragments and department gene region of HCC can exist latent anti oncogene of and to provide certain theoretical basis for the next step of coherent tumor suppressor gene map stop positioning accuracy. The cloning of HCC related tumor suppressor gene and to the member of signal pathway and conduction mechanism stop stop deep research.目录:缩略语表5-7中文摘要7-10英文摘要10-13前言14-15文献回顾15-25正文 原发性肝癌染色体 8P和 16q 杂合性丢失的研究25-39&&&&0 引言25&&&&1 材料25-28&&&&2 方法28-33&&&&3 结果33-36&&&&4 讨论36-39小结39-40参考文献40-49附录49-50个人简历和研究成果50-51致谢51-52分享到：相关文献|}