Prenatal diagnosis of partial monosomy 21q (21q22.1 -> qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

Chen Ying-Chung; Wu Wan-Ju; Chang Shun-Ping; Ma Gwo-Chin; Chen Ming

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Prenatal diagnosis of partial monosomy 21q (21q22.1 -> qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

机译：与宫内生长限制和胼call软糖膜功能相关的部分单体21Q（21Q22.1 - > qter）的产前诊断

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摘要

Objective: A prenatal diagnosis of partial monosomy 21q(21q22.1 -> qter) in fetus with intrauterine growth restriction and corpus callosum dysgenesis but escaped from the detection by cell free DNA testing was reported.

机译：目的：报道了胎儿中胎儿胎儿胎儿的胎儿术21Q（21Q22.1-> qT）的产前诊断。

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来源
《Taiwanese journal of obstetrics and gynecology》 |2020年第1期|共5页
作者
Chen Ying-Chung; Wu Wan-Ju; Chang Shun-Ping; Ma Gwo-Chin; Chen Ming;
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作者单位

Changhua Christian Hosp Dept Obstet &

Gynecol Changhua Taiwan;

Changhua Christian Hosp Dept Obstet &

Gynecol Changhua Taiwan;

Changhua Christian Hosp Dept Genom Med Changhua Taiwan;

Changhua Christian Hosp Dept Genom Med Changhua Taiwan;

Changhua Christian Hosp Dept Obstet &

Gynecol Changhua Taiwan;

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原文格式 PDF
正文语种 eng
中图分类妇产科学;
关键词
Genetics; Down syndrome; Monosomy; Prenatal diagnosis; Single umbilical artery;

机译：遗传学;唐氏综合症;单体术;产前诊断;单脐动脉;

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专利

1. Prenatal diagnosis of partial monosomy 21q (21q22.1 -> qter) associated with intrauterine growth restriction and corpus callosum dysgenesis [J] . Chen Ying-Chung, Wu Wan-Ju, Chang Shun-Ping, Taiwanese journal of obstetrics and gynecology . 2020,第1期

机译：与宫内生长限制和胼call软糖膜功能相关的部分单体21Q（21Q22.1 - > qter）的产前诊断
2. Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly [J] . Pi-Lin Sung, Chia-Ming Chang, Chih-Yao Chen, Taiwanese journal of obstetrics and gynecology . 2012,第2期

机译：胎儿双侧脑室扩大，call体发育不全和多发性胎儿的微缺失16p13.11结合2q37.1-qter部分单胞体和7p15.3-pter部分三体组合的产前诊断。
3. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism [J] . Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Taiwanese journal of obstetrics and gynecology . 2021,第1期

机译：11Q13.4-Q14.3的四元素由于11Q14.3- quer，宫内生长限制，发育延迟，胼um患者，微术，先天性心脏缺陷和面部疑难垂相关
4. Changes in QRS and T-wave Loops Subsequent to an Increase in Left Ventricle Globularity as in Intrauterine Growth Restriction: a Simulation Study [C] . Freddy L Bueno-Palomeque, Konstantinos A Mountris, Ana Mincholé, Computing in Cardiology . 2020

机译：随后在宫内生长限制中增加左心室球状，随后QRS和T波环的变化：模拟研究
5. Cognitive and developmental features of children with dysgenesis of the corpus callosum. [D] . Kovac, Megan. 2011

机译：call体发育异常的儿童的认知和发育特征。
6. Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype [O] . Ponnila S Marinescu, Devereux N Saller, W Tony Parks, 2015

机译：阵列CGH对明显核型正常的胎儿的三体性6q25.3-qter和单体性10q26.12-qter的产前诊断
7. Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly [O] . Pi-Lin Sung, Chia-Ming Chang, Chih-Yao Chen, 2012

机译：产前诊断微缺失16p13.11联合部分单体2q37.1-qter和部分三体性7p15.3-pter胎儿双侧脑室扩大，胼age体发育不全和多指畸形

Prenatal diagnosis of partial monosomy 21q (21q22.1 -> qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

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