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本文引用的文献

1
A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum.一名具有严重表型女孩的新发Xp11.23重复：扩展临床谱
J Pediatr Genet. 2018 Jun;7(2):74-77. doi: 10.1055/s-0037-1612598. Epub 2017 Dec 18.
2
Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.智力障碍中的基因组微阵列：现有系统在解读拷贝数变异中的实用性
J Pediatr Genet. 2017 Jun;6(2):84-91. doi: 10.1055/s-0036-1588027. Epub 2016 Sep 8.
3
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.染色体微阵列：了解神经发育障碍和先天性异常的遗传学
J Pediatr Genet. 2017 Mar;6(1):42-50. doi: 10.1055/s-0036-1584306. Epub 2016 May 30.
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Interstitial 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.间质性18q22.3q23缺失：一例新病例的临床、神经放射学及分子特征分析并文献复习
Mol Cytogenet. 2016 Oct 10;9:78. doi: 10.1186/s13039-016-0285-1. eCollection 2016.
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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.一名患有3q29微重复综合征的患者出现脑性瘫痪、癫痫和严重智力残疾。
Am J Med Genet A. 2014 Aug;164A(8):2043-7. doi: 10.1002/ajmg.a.36559. Epub 2014 May 16.
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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.SOX9对SATB2或其长程顺式调控的破坏会导致一种综合征形式的Pierre Robin序列。
Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20.
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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.一名具有1q43q44微缺失综合征特征的患者中ZBTB18基因出现的新发无义突变。
Eur J Hum Genet. 2014 Jun;22(6):844-6. doi: 10.1038/ejhg.2013.249. Epub 2013 Nov 6.
8
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.脑源性神经营养因子（BDNF）单倍体不足与 WAGR/11p13 缺失综合征患者较低的适应行为和认知功能降低有关。
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.2q37 缺失综合征：14 例新患者的临床特征（包括超重、短指和行为特征）更新。
Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.
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A phenotype map for 14q32.3 terminal deletions.14q32.3 末端缺失的表型图谱。
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不明原因发育迟缓/智力残疾儿童的染色体微阵列分析

Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.

作者信息

Arican Pinar, Olgac Dundar Nihal, Ozyilmaz Berk, Cavusoglu Dilek, Gencpinar Pinar, Erdogan Kadri Murat, Saka Guvenc Merve

机构信息

Department of Pediatric Neurology, Tepecik Training and Research Hospital, Izmir, Turkey.

Department of Pediatric Neurology, Katip Celebi University, Izmir, Turkey.

出版信息

J Pediatr Genet. 2019 Mar;8(1):1-9. doi: 10.1055/s-0038-1676583. Epub 2018 Dec 14.

DOI:10.1055/s-0038-1676583
PMID:30775046
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6375720/
Abstract

Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

摘要

如今，染色体微阵列（CMA）分析用于发现拷贝数变异（CNV），已被推荐作为不明原因发育迟缓/智力残疾（DD/ID）和自闭症谱系障碍患者的一线诊断工具。在本研究中，我们展示了DD/ID患者CMA分析的结果。在210例患者中，26例（12%）检测到致病性CNV，36例（17%）儿童检测到临床意义不确定的变异。12例患者确诊为公认的遗传综合征。CMA分析揭示了致病性新发CNV，如具有新临床特征的11p13重复。我们的结果支持CMA作为不明原因DD/ID的常规诊断检测方法的实用性。