A Case of Partial Trisomy of Chromosome 8p Associated with Autism

Katerina Papanikolaou; Elena Paliokosta; Jolanda Gyftodimou; Gerassimos Kolaitis; Sofia Vgenopoulou; Catherine Sarri; John Tsiantis

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A Case of Partial Trisomy of Chromosome 8p Associated with Autism

机译：8p染色体部分三体性与自闭症相关的一例

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We report on a case of a 6-year-old female with partial trisomy 8p(21–23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored.

机译：我们报道了一例6岁女性，患有部分三体性8p（21–23），与自闭症，轻度畸形特征和中度学习障碍有关。尽管智力低下是镶嵌8号三体症或8号染色体各个区域的部分三体症的常见发现，但迄今仅报道了2例与自闭症相关的病例。同样，在本例中，与其他具有重复8号染色体相同区域的患者相比，临床表现较温和。尽管到目前为止，在任何全基因组连锁研究中都没有强有力的证据表明8号染色体上存在连锁。该部分包括与自闭症病因有关的基因，应进一步探索。

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来源
《Journal of Autism and Developmental Disorders》 |2006年第5期|705-709|共5页
作者
Katerina Papanikolaou; Elena Paliokosta; Jolanda Gyftodimou; Gerassimos Kolaitis; Sofia Vgenopoulou; Catherine Sarri; John Tsiantis;
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作者单位

Department of Child Psychiatry University of Athens “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

Department of Child Psychiatry University of Athens “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

Department of Genetics Institute of Child Health “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

Department of Child Psychiatry University of Athens “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

Department of Child Psychiatry University of Athens “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

Department of Genetics Institute of Child Health “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

Department of Child Psychiatry University of Athens “Agia Sophia” Children’s Hospital 115 27 Athens Greece;

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原文格式 PDF
正文语种 eng
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关键词
Autism; Genetics; Chromosome 8; Partial trisomy 8p;

机译：自闭症;遗传学;染色体8;部分三体8p;

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机译：部分单粒子8P（8P23.2→Pter）和部分三兆癣15Q（15Q21.2→qter）的诊断和偶然染色体血液迁移的偶然检测与颈部半透明和异常母体血清筛选结果相关
2. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation [J] . Ilknur Erol, Semra Sayg?aenay Demir, Fusun Alehan, Journal of pediatric neurosciences . 2015,第1期

机译：西部综合征，伴有新的染色体异常;家族性不平衡易位导致的部分三体性8P和部分性9P
3. Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization. [J] . Chen CP, Su YN, Tsai FJ, Taiwanese journal of obstetrics and gynecology . 2011,第2期

机译：部分单体性13q（13q21.32 ---> qter）和部分三体性8p（8p1 ---> pter）表现为无脑并增加了颈部半透明性：阵列比较基因组杂交表征。
4. Cell-Free DNA Prenatal Screen Pipeline for Trisomy and Sex Chromosome Aneuploidy at the Mayo Clinic [C] . Carlos P. Sosa International Molecular Medicine Tri-Conference. . 2019

机译：Mayo诊所的三元和性染色体非细胞非染色体的无细胞DNA产前筛网管道
5. Significance of chromosome 8p allele status in prostate cancer progression [D] . Morikawa, Aki. 2006

机译：染色体8p等位基因状态在前列腺癌进展中的意义
6. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). [O] . A S Plomp, J J Engelen, J C Albrechts, 1998

机译：一个家庭中有两个相互易位的部分三体性8p和部分单性21q（8; 21）（p21.1; q22.3）。
7. Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization [O] . Chih-Ping Chen, Yi-Ning Su, Fuu-Jen Tsai, 2011

机译：部分单体13q（13q21.32→qter）和部分三体性8p（8p12→pter）呈现无脑畸形和增加的颈部半透明：阵列比较基因组杂交表征

A Case of Partial Trisomy of Chromosome 8p Associated with Autism

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