EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)

Atli E. I; Gurkan H.; Atli E.; Tozkir H.; Varol G. F.; Inan C.

首页> 外文期刊>Balkan journal of medical genetics: BJMG >EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)

【24h】

EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)

机译：新案例的ePrenatal诊断：De Novo平衡非狂犬病易位涉及T（15; 22）（P11.2; Q11.2）

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46, XY, t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46, XY, t(15;22)(p11.2;q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.

机译：与上垂染色体相关的平衡非罗伯逊易位（ROB）是一种不寻常的现象。我们举报了罕见的非抢劫涉及染色体15和22的病例，具有46，XY，T（15; 22）的细胞遗传学和分子细胞遗传学结果（P11.2; Q11.2）。据我们所知，T（15; 22）是这个断点的第一个不是通常的非抢劫的报告。绒毛膜绒毛池的核型为46，XY，T（15; 22）（P11.2; Q11.2），来自两种不同的初始培养。这与通常的非侵蚀染色体的常规非捕获不同。已经进行了比较基因组杂交以确定染色体来源。与上注染色体相关的非罗伯逊易位是一个不寻常的事件，并且仅报告了一些案例。在这项研究中，我们观察到中性染色体15和22作为很少平衡的非捕获，其中染色体15兼向于染色体22和一部分染色体22的卫星似的染色体15.据我们所知，我们的病人是我们的患者第一次案例在产前和后期易位的文献中报道。

著录项

来源
《Balkan journal of medical genetics: BJMG》 |2018年第2期|共4页
作者
Atli E. I; Gurkan H.; Atli E.; Tozkir H.; Varol G. F.; Inan C.;
展开▼
作者单位

Trakya Univ Dept Med Genet Fac Med Edirne Turkey;

Trakya Univ Dept Med Genet Fac Med Edirne Turkey;

Trakya Univ Dept Med Genet Fac Med Edirne Turkey;

Trakya Univ Dept Med Genet Fac Med Edirne Turkey;

Trakya Univ Dept Gynecol &

Obstet Fac Med Edirne Turkey;

Trakya Univ Dept Gynecol &

Obstet Fac Med Edirne Turkey;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类遗传学;
关键词
Array comparative genomic hybridization (array-CGH); Chorion villus sampling (CVS); Cytogenetics; Fluorescence in situ hybridization (FISH); Non-Robertsonian translocation (non-ROB);

机译：阵列比较基因组杂交（阵列-CGH）;绒毛膜绒毛采样（CVS）;细胞遗传学;荧光原位杂交（鱼）;非罗伯逊易位（非抢劫）;

相似文献

外文文献
专利

1. EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2) [J] . Atli E. I, Gurkan H., Atli E., Balkan journal of medical genetics: BJMG . 2018,第2期

机译：新案例的ePrenatal诊断：De Novo平衡非狂犬病易位涉及T（15; 22）（P11.2; Q11.2）
2. Clinical management of a rare de novo translocation 46,X,t(Y;15) (p11.2 approximately 11.3;q11.2).ish t(Y;15)(DYZ3+,AMELY+,SNRPN+;D15Z+) found prenatally. [J] . Reddy KS Prenatal Diagnosis . 1998,第3期

机译：产前发现的罕见的从头移位46，X，t（Y; 15）（p11.2约为11.3; q11.2）.ish t（Y; 15）（DYZ3 +，AMELY +，SNRPN +; D15Z +）的临床管理。
3. Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader–Willi syndrome [J] . Chih-Ping Chen, Ming-Huei Lin, Yi-Yung Chen, Taiwanese journal of obstetrics and gynecology . 2021,第2期

机译：15Q11.2-Q14的产前诊断患有父子原产地与颈部半透明的父母，Masaicism为 de novo 涉及15q11-q14，5，5时，15 Q，17pter和3时的多个不平衡换算PRADER-WILLI综合症
4. THEORETICAL INVESTIGATION OF A HIGH ENERGETIC 2,4,6,8,11,13,15,17,19,22,23,24-DODECANITRO-2,4,6,8,11,13,15,17,19,22,23,24-DODECAAZA-NONACYCLO16.4.1~(9,21).1~(10,20).0~(1,9).0~(3,7).0~(3,16).0~(5,14).0~(7,12).0~(10,18).0~(12,16) TETRACOSANE [C] . Guozheng Zhao, Ming Lu International annual conference of Fraunhofer ITC . 2014

机译：2,4,6,8,11,13,15,17,19,22,23,24-DODECANITRO-2,4,6,8,11,13,15,17,19，的高能理论研究22,23,24-DODECAAZA-NONACYCLO 16.4.1〜（9,21）.1〜（10,20）.0〜（1,9）.0〜（3,7）.0〜（3,16 ）.0〜（5,14）.0〜（7,12）.0〜（10,18）.0〜（12,16）四碳烷
5. The t(14;21)(q11.2;q22) chromosomal translocation associated with T-cell acute lymphoblastic leukemia activates the BHLHB1 and BHLHB2 genes. [D] . Wang, Junjie. 2003

机译：与T细胞急性淋巴细胞白血病相关的t（14; 21）（q11.2; q22）染色体易位激活了BHLHB1和BHLHB2基因。
6. Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2) [O] . Eİ Atli, H Gurkan, E Atli, 2018

机译：新病例的产前诊断：涉及t（15; 22）（p11.2; q11.2）的De Novo平衡非罗伯逊氏易位
7. Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2) [O] . Bovie, C, Holden, S, Schroer, A, 2003

机译：从头平衡平衡易位的患者的神经纤维瘤病2（46，X，t（X; 22）（p11.2; q11.2）
8. Diagnosis of myocardial involvement in patients with systemic myopathies with 15-(p-(I-123)iodophenyl) pentadecanoic acid (IPPA) SPECT. [R] . J. Kropp B. Briele A. V. Smekal A. L. Hotze H. J. Biersack 1992

机译：用15-（对 - （I-123）碘苯基）十五烷酸（Ippa）spECT诊断患有全身性肌病的患者的心肌受累。

EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)

摘要

著录项

相似文献

相关主题

期刊订阅