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The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

机译：存在两个罕见的基因组综合症，即1q21缺失和Xq28重复，在智障家庭中独立存在

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1. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability [J] . Kyungsoo Ha, Yiping Shen, Tyler Graves, Molecular cytogenetics . 2016,第1期

机译：存在两种稀有基因组综合征，1Q21删除和XQ28重复，在具有智力残疾的家庭中独立隔离
2. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. [J] . El Hattab AW, Fang P, Jin W, Journal of Medical Genetics . 2011,第12期

机译：Int22h-1 / int22h-2介导的Xq28重排：与复制相关的智力残疾和与删除相关的子宫内致死性。
3. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability [J] . AndersenE.F., BaldwinE.E., EllingwoodS., American journal of medical genetics, Part A . 2014,第7期

机译：Xq28重复与int22h-1 / int22h-2地区重叠，并且包括一个具有智力和发育障碍的家庭中的RAB39B和CLIC2
4. (424)INDEPENDENT LIVING AND INTERPERSONAL RELATIONSHIPS OF INDIVIDUALS WITH INTELLECTUAL DISABILITY: THE PERSPECTIVE OF INDIVIDUALS WITH INTELLECTUAL DISABILITY IN GREECE [C] . Ioanna Dimitriadou, Elisavet Pavlidou, Lefkothea Kartasidou International Technology, Education and Development Conference . 2016

机译：（424）具有智力残疾个人的独立生活和人际关系：希腊智力残疾人的视角
5. Genetic Functions of Tbx1 in Mouse Models of 22q11.2 Deletion and Duplication Syndromes [D] . Hasten, Erica 2019

机译：Tbx1在22q11.2删除和复制综合征小鼠模型中的遗传功能。
6. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability [O] . Kyungsoo Ha, Yiping Shen, Tyler Graves, 2015

机译：存在两个罕见的基因组综合症，即1q21缺失和Xq28重复，在智障家庭中独立存在
7. Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability [O] . Jonathan D. J. Labonne, Yiping Shen, Il-Keun Kong, 2016

机译：在1p31.3-p32.2处进行的比较性缺失定位意味着NFIA导致智力障碍，伴有大头畸形以及存在其他几种综合征性智力障碍的基因

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

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