A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

Seneesh Kumar Vikraman; Vipin Chandra; Bijoy Balakrishanan; Meenu Batra; Rekha Kuriakose; Gopinathan Kannoly

首页> 外文期刊>International Journal of Reproduction, Contraception, Obstetrics and Gynecology >A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

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A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

机译：罕见的父母双亲t（21q; 21q）罗伯逊易位，在所有可行的怀孕中均导致唐氏综合症

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We report a case of a rare balanced Robertsonian translocation, t (21q; 21q) in one of the parents that results in adverse pregnancy outcome in 100 % of cases, either first trimester miscarriages or Down syndrome in all viable fetuses. The case highlights the role of optimum genetic evaluation of all cases of reproductive disorders as they can have profound effect over prognosis and further management.

机译：我们报告了一例罕见的平衡罗伯逊易位，t（21q; 21q）的父母中的一个病例，导致所有存活胎儿的妊娠早期流产或唐氏综合症病例中有100％出现不良妊娠结局。该病例强调了对所有生殖疾病病例进行最佳遗传评估的作用，因为它们可以对预后和进一步治疗产生深远影响。

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《International Journal of Reproduction, Contraception, Obstetrics and Gynecology》 |2015年第2期|共4页
作者
Seneesh Kumar Vikraman; Vipin Chandra; Bijoy Balakrishanan; Meenu Batra; Rekha Kuriakose; Gopinathan Kannoly;
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中图分类妇产科学;
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1. A Rare De Novo Robertsonian Translocation t(21q; 21q) in an Iranian Child With Down Syndrome: A Case Report [J] . Ali Nikfar, Mojdeh Mansouri, Gita Fatemi Abhari Acta medica Iranica. . 2019,第8期

机译：一名患有唐氏综合症的伊朗儿童的罕见新罗伯逊易位t（21q; 21q）：病例报告
2. Pregnancy following oocyte donation in a woman with Noonan's syndrome and a balanced Robertsonian translocation a case report. [J] . Engemise S, Croucher C Archives of gynecology and obstetrics. . 2007,第2期

机译：一名Noonan综合征和均衡的Robertsonian易位妇女捐卵后怀孕的病例报告。
3. Pregnancy following oocyte donation in a woman with Noonan’s syndrome and a balanced Robertsonian translocation a case report [J] . Samuel Engemise, Carolyn Croucher Archives of Gynecology and Obstetrics . 2007,第2期

机译：一名Noonan综合征和均衡的Robertsonian易位妇女捐卵后怀孕的病例报告
4. Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal. [O] . M B Petersen, P A Adelsberger, A A Schinzel, 1991

机译：由新罗伯逊易位t（14q; 21q）导致的唐氏综合症：DNA多态性分析表明额外21q的起源是母亲。
5. Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement. [O] . Tharapel, A T, Redheendran, R, Mankinen, C B, 1984

机译：从头45，XX，-21，-22，+ t（21q; 22q）/ 46，XX，-21，+ t（21q; 21q）重排的马赛克唐氏综合征。

A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

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