Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations

Osiak Lucas; Saraiva Joao G.; Mestre Viviane de F.; Ferrari Ligia S. L.; Paiva Wagner J. M.; de Lima Renata L. L. F.; Salles Maria J. S.

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Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations

机译：染色体染色体的部分单粒子和先天性畸形的染色体21和畸形畸形

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来源
《Clinical dysmorphology 》 |2020年第3期| 共2页
作者
Osiak Lucas; Saraiva Joao G.; Mestre Viviane de F.; Ferrari Ligia S. L.; Paiva Wagner J. M.; de Lima Renata L. L. F.; Salles Maria J. S.;
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作者单位

Univ Estadual Londrina Lab Dev Toxicol Dept Gen Biol Londrina Parana Brazil;

Univ Estadual Londrina Lab Dev Toxicol Dept Gen Biol Londrina Parana Brazil;

Univ Estadual Londrina Lab Dev Toxicol Dept Gen Biol Londrina Parana Brazil;

Univ Estadual Londrina Dept Pediat &

Pediat Surg Londrina Parana Brazil;

Univ Estadual Londrina Genet Counseling Serv Dept Gen Biol Londrina Parana Brazil;

Univ Fed Bahia Human Genet &

Mutagenesis Lab Dept Genet Inst Biol Salvador BA Brazil;

Univ Estadual Londrina Lab Dev Toxicol Dept Gen Biol Londrina Parana Brazil;

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正文语种 eng
中图分类妇产科学 ;
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1. Genetic aberration in primary hepatocellular carcinoma：correlation between p53 gene mutation and loss—of—heterozygosity on chromosome 16q21—q23 and 9p21—p23 [J] . WANGGANG, CHANGHUIHUANG, 等细胞研究：英文版 . 2000 ,第004期
2. Genetic aberration in primary hepatocellular carcinoma: correlation between p53 gene mutation and loss-of-heterozygosity on chromosome 16q21-q23 and 9p21-p23 [J] . 细胞研究（英文版） . 2000 ,第004期
3. Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature [J] . Svetlana G Vorsanova, Ivan Y Iourov, Victoria Y Voinova-Ulas, Molecular cytogenetics . 2008 ,第19期

机译：部分隐性染色体7q34-qter和21pter-q22.13由于隐秘的不平衡易位t（7; 21）而并非整个21号染色体的单体性：1例病例报告和文献复习
4. Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1–q21.2 and 5-Mb deletion of 21q22.3 [J] . Chih-Ping Chen, Yi-Hui Lin, Szu-Yuan Chou, Taiwanese journal of obstetrics and gynecology . 2012 ,第1期

机译：镶嵌环21号染色体，21号染色体和等距环21号染色体：产前诊断，分子细胞遗传学特征以及与21q21.1–q21.2的2-Mb缺失和21q22.3的5-Mb缺失相关
5. Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3 [J] . ChenC.-P., LinY.-H., ChouS.-Y., Taiwanese journal of obstetrics and gynecology . 2012 ,第1期

机译：镶嵌环染色体21、21号染色体和等距环染色体21：产前诊断，分子细胞遗传学特征以及与21q21.1-q21.2的2-Mb缺失和21q22.3的5-Mb缺失相关
6. CHAN-VESE BASED METHOD TO SEGMENT MOUSE BRAIN MRI IMAGES: APPLICATION TO CEREBRAL MALFORMATION ANALYSIS IN TRISOMY 21 [C] . Ahmad Almhdie, Patricia Lopes-Pereira, Sandra Meme, European signal processing conference;EUSIPCO 2009 . 2010

机译：基于改变神经的分割小鼠脑MRI图像的方法：在21型三叉神经畸形分析中的应用
7. Identification of chromosome 6p25 genes involved in Dandy-Walker malformation: The role of FOXC1 in cerebellar development and implications for cerebellar genes in autism. [D] . Aldinger, Kimberly Anne. 2008

机译：鉴定涉及Dandy-Walker畸形的6p25染色体基因：FOXC1在小脑发育中的作用以及对自闭症中小脑基因的影响。
8. Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature [O] . Svetlana G Vorsanova, Ivan Y Iourov, Victoria Y Voinova-Ulas, 2008

机译：部分隐性染色体7q34-qter和21pter-q22.13由于隐含的不平衡易位t（7; 21）而并非整个21号染色体的单体性：1例病例报告和文献复习
9. Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature [O] . Kolotii Alexei D, Monakhov Victor V, Weise Anja, 2008

机译：部分单体7q34-qter和21pter-q22.13由于隐蔽的不平衡易位t（7; 21）但不是整个染色体21的单体性：病例报告加上文献综述
10. Human Chromosome 21: Mapping of the chromosomes and cloning of cDNAs. Progress report, June 15, 1989--August 31, 1991. [R] . S. E. Antonarakis 1991

机译：人类染色体21：染色体的定位和cDNa的克隆。进展报告，1989年6月15日 - 1991年8月31日。

Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations

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