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Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.

作者信息

Kwon Soon Sung, Kim Jieun, Shin Saeam, Lee Seung Tae, Lee Kyung A, Choi Jong Rak

机构信息

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Department of Laboratory Medicine, Soon Chun Hyang University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2018 Jan;38(1):77-79. doi: 10.3343/alm.2018.38.1.77.

DOI:10.3343/alm.2018.38.1.77
PMID:29071826
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5700154/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81dd/5700154/fbe181f06542/alm-38-77-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81dd/5700154/fbe181f06542/alm-38-77-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81dd/5700154/fbe181f06542/alm-38-77-g001.jpg

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Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.短篇报告:20p13 重复的双胞胎。病例报告及全面文献复习。

本文引用的文献

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Mosaic deletion of 20pter due to rescue by somatic recombination.由于体细胞重组挽救导致的20号染色体短臂末端镶嵌性缺失。
Am J Med Genet A. 2016 Jan;170A(1):243-8. doi: 10.1002/ajmg.a.37407. Epub 2015 Oct 5.
2
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.SOX12 和 NRSN2 是与发育迟缓相关的 20p13 端粒下缺失的候选基因。
Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):832-40. doi: 10.1002/ajmg.b.32187. Epub 2013 Sep 6.
3
Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features.
Mol Genet Genomic Med. 2024 May;12(5):e2436. doi: 10.1002/mgg3.2436.
4
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.智力障碍的诊断产量:全基因组低覆盖测序和外显子组医学测序的结合。
BMC Med Genomics. 2020 May 19;13(1):70. doi: 10.1186/s12920-020-0726-x.
在一名患有智力障碍、肥胖、慢性肾病且具有特征性面部特征的泰国成年女性中发现20号染色体短臂倒位重复缺失。
Eur J Med Genet. 2013 Jun;56(6):319-24. doi: 10.1016/j.ejmg.2013.03.011. Epub 2013 Mar 29.
4
Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.导致18号染色体长臂缺失和20号染色体短臂重复的不平衡三向染色体易位。
Eur J Med Genet. 2012 Apr;55(4):265-8. doi: 10.1016/j.ejmg.2012.01.015. Epub 2012 Feb 21.
5
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.对一名具有多种先天畸形且核型正常的发育异常患者进行细胞遗传学分析,发现其 9p 存在一段 17.6Mb 的缺失,同时 20p 存在一段 14.8Mb 的重复,这两种异常均为染色体结构异常。
Gene. 2012 Mar 15;496(1):59-62. doi: 10.1016/j.gene.2012.01.007. Epub 2012 Jan 20.
6
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Eur J Med Genet. 2012 Feb;55(2):151-5. doi: 10.1016/j.ejmg.2011.12.009. Epub 2012 Jan 5.
7
A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.一例部分 20p 三体综合征,源于母源着丝粒倒位的减数分裂重组。
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8
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