Duplication 11p as a result of an unbalanced translocation 46,XY,der(6)t(6;11)(q27; p15.5) mat in a boy with Silver-Russell-Syndrome-like symptoms

Singer Sylke; Riess Angelika; Kehrer Martin; Tzschach Andreas; Hoopmann Markus; Goelz Rangmar; Eggermann Thomas; Mau-Holzmann Ulrike

首页> 外文期刊>Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology >Duplication 11p as a result of an unbalanced translocation 46,XY,der(6)t(6;11)(q27; p15.5) mat in a boy with Silver-Russell-Syndrome-like symptoms

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Duplication 11p as a result of an unbalanced translocation 46,XY,der(6)t(6;11)(q27; p15.5) mat in a boy with Silver-Russell-Syndrome-like symptoms

机译：复制11p作为不平衡易位46，xy，der（6）t（6; 11）（q27; p15.5）垫在一个有银罗素综合征样症状的男孩中

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《Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology》 |2015年第1期|共1页
作者
Singer Sylke; Riess Angelika; Kehrer Martin; Tzschach Andreas; Hoopmann Markus; Goelz Rangmar; Eggermann Thomas; Mau-Holzmann Ulrike;
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作者单位

Univ Tubingen Inst Med Genet &

Appl Genom Tubingen Germany;

Univ Tubingen Inst Med Genet &

Appl Genom Tubingen Germany;

Univ Tubingen Inst Med Genet &

Appl Genom Tubingen Germany;

Univ Dresden Inst Med Genet Dresden Germany;

Univ Tubingen Dept Gynaecol Tubingen Germany;

Univ Tubingen Univ Childrens Hosp Tubingen Germany;

Univ Hosp RWTH Aachen Inst Human Genet Aachen Germany;

Univ Tubingen Inst Med Genet &

Appl Genom Tubingen Germany;

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正文语种 eng
中图分类医学遗传学;
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1. Duplication 11p as a result of an unbalanced translocation 46,XY,der(6)t(6;11)(q27; p15.5) mat in a boy with Silver-Russell-Syndrome-like symptoms [J] . Singer Sylke, Riess Angelika, Kehrer Martin, Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology . 2015,第Suppla1期

机译：复制11p作为不平衡易位46，xy，der（6）t（6; 11）（q27; p15.5）垫在一个有银罗素综合征样症状的男孩中
2. Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features. [J] . Fert Ferrer-S, Guichet A, Tantau J, Prenatal Diagnosis . 2000,第6期

机译：在两个具有Beckwith-Wiedemann特征的胎儿中，微妙的家族性不平衡移位t（8; 11）（p23.2; p15.5）。
3. Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10] [J] . HuH., YaoH., DongY., American journal of medical genetics, Part A . 2014,第8期

机译：跳跃易位核型45，XY，der（16）t（16; 22）（q24; q11.2），-22 [59] / 45，XY，der（1）t（ 1; 22）（p36; q11.2），-22 [11] / 45，XY，der（22）t（22; 22）（p13; q11.2），-22 [10]
4. Late replication studies and esterase D levels in a case of unbalanced X;autosome translocation 46Xt(X;13)(q27;q12). [O] . D R Romain, L M Columbano-Green, R G Parfitt, 1988

机译：X不平衡情况下的后期复制研究和酯酶D水平；常染色体易位46Xt（X; 13）（q27; q12）。
5. Mosaic Trisomy 1q Due to a de novo Translocation in a Foetus with Early Developmental Abnormalities (Karyotype 46,XY,der(14),t(1;14)(p11;p11.2)/46,XY) Delineation of Parent and Cell Stage of Origin [O] . Thomas Eggermann 2008

机译：Mosaic Trisomy 1Q由于具有早期发育异常的胎儿中的Novo易位（核型46，XY，DER（14），T（1; 14）（P11; P11.2）/ 46，XY）描绘父母和细胞起源阶段

Duplication 11p as a result of an unbalanced translocation 46,XY,der(6)t(6;11)(q27; p15.5) mat in a boy with Silver-Russell-Syndrome-like symptoms

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