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2
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Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.一名患有智力残疾且携带6q26-qter末端缺失的轻度表型患者的发育协调障碍。
Front Genet. 2017 Dec 6;8:206. doi: 10.3389/fgene.2017.00206. eCollection 2017.
2
Spina bifida.脊柱裂。
Nat Rev Dis Primers. 2015 Apr 30;1:15007. doi: 10.1038/nrdp.2015.7.
3
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.通过寡核苷酸单核苷酸多态性阵列鉴定的纯合子区域：评估发生率及临床应用价值
Eur J Hum Genet. 2015 May;23(5):663-71. doi: 10.1038/ejhg.2014.153. Epub 2014 Aug 13.
4
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.一种用于 SNP 芯片的临床评估工具，特别是用于近亲父母后代的常染色体隐性疾病。
Genet Med. 2013 May;15(5):354-60. doi: 10.1038/gim.2012.136. Epub 2012 Oct 25.
5
Delineation of subtelomeric deletion of the long arm of chromosome 6.6号染色体长臂亚端粒缺失的描绘
Ann Hum Genet. 2011 Nov;75(6):755-64. doi: 10.1111/j.1469-1809.2011.00675.x. Epub 2011 Sep 22.
6
Relative impact of nucleotide and copy number variation on gene expression phenotypes.核苷酸和拷贝数变异对基因表达表型的相对影响。
Science. 2007 Feb 9;315(5813):848-53. doi: 10.1126/science.1136678.
7
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.6q末端缺失综合征的临床表型与分子特征：五例新病例
Am J Med Genet A. 2006 Sep 15;140(18):1944-9. doi: 10.1002/ajmg.a.31435.
8
Isolated 6q terminal deletions: an emerging new syndrome.孤立性6q末端缺失：一种新出现的综合征。
Am J Med Genet A. 2006 Jan 1;140(1):74-81. doi: 10.1002/ajmg.a.31020.
9
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.对人类神经管缺陷中醛脱氢酶1A2（ALDH1A2）、细胞色素P450 26A1（CYP26A1）、细胞色素P450 26B1（CYP26B1）、细胞视黄醇结合蛋白1（CRABP1）和细胞视黄醇结合蛋白2（CRABP2）的分析表明，其可能与ALDH1A2中的等位基因存在关联。
Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):868-75. doi: 10.1002/bdra.20183.
10
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.神经细胞黏附分子1基因（NCAM1）中的单核苷酸多态性可能与人类神经管缺陷有关。
Hum Genet. 2005 Jul;117(2-3):133-42. doi: 10.1007/s00439-005-1299-7. Epub 2005 May 10.

一名患有6号染色体长臂26区间质缺失患者的多种先天性异常。

Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion.

作者信息

Puvabanditsin Surasak, Negroponte Emily, Jang Peter, Hedges Amanda, Kased Ramnan, Mehta Rajeev

机构信息

Department of Pediatrics, Rutgers Robert Wood Johnson (RWJ) Medical School, New Brunswick, NJ, USA.

出版信息

Mol Syndromol. 2020 Jan;10(5):276-280. doi: 10.1159/000503698. Epub 2019 Oct 22.

DOI:10.1159/000503698
PMID:32021599
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6997795/
Abstract

We report a preterm male neonate presenting with a lumbosacral meningomyelocele, type II Arnold Chiari malformation, hypoplasia of the aortic arch, bicuspid aortic valve, ventricular septal defect, secundum atrial septal defect, multicystic dysplastic kidney, and hydronephrosis. Analysis with whole genome SNP microarray revealed an interstitial deletion of about 237 kb in chromosome 6q26. Long contiguous stretches of homozygosity (>3 Mb) were seen in 18 chromosomes with a total genomic size of 219 Mb. The phenotype seen in our patient has not been reported in association with the genes in the homozygous regions. However, our patient shares many phenotypic features with other reported cases that have shown a deletion in the same region of chromosome 6.

摘要

我们报告了一名早产男婴，患有腰骶部脊髓脊膜膨出、II型阿诺德-基亚里畸形、主动脉弓发育不全、二叶式主动脉瓣、室间隔缺损、继发孔房间隔缺损、多囊性发育不良肾和肾积水。全基因组SNP微阵列分析显示6号染色体q26区域存在约237 kb的间质缺失。在18条染色体上发现了长的连续纯合片段（>3 Mb），总基因组大小为219 Mb。在我们的患者中观察到的表型尚未见与纯合区域中的基因相关的报道。然而，我们的患者与其他已报道的在6号染色体同一区域出现缺失的病例有许多共同的表型特征。