A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

被引：0
作者：
Jianlong Zhuang
Meihua Xie
Jianfeng Yao
Wanyu Fu
Shuhong Zeng
Yuying Jiang
Yuanbai Wang
Yingjun Xie
Gaoxiong Wang
Chunnuan Chen
机构：
[1] Quanzhou Women’s and Children’s Hospital,Prenatal Diagnosis Center
[2] Yueyang Central Hospital,Prenatal Diagnosis Center
[3] Quanzhou Women’s and Children’s Hospital,Department of Women Healthcare
[4] Third Affiliated Hospital of Guangzhou Medical University,Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes
[5] Third Affiliated Hospital of Guangzhou Medical University,Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes
[6] Quanzhou Women’s and Children’s Hospital,Department of Neurology
[7] The Second Affiliated Hospital of Fujian Medical University,undefined
来源：
BMC Medical Genomics | / 16卷
关键词：
1q44 microdeletion; Chromosomal microarray analysis; Whole exome sequencing; Developmental delay; Seizures; Intellectual disability;
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[21]  
Laridon A(2010) microdeletion 1q44 in a patient with seizures and developmental delay Eur J Med Genet 53 179-716
[22]  
Ioan DM(2017)Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene Am J Med Genet A 173 972-205
[23]  
Maximilian C(2012)Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly Eur J Med Genet 55 715-764
[24]  
Kleczkowska A(2014)A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures Am J Med Genet A 164A 186-108
[25]  
Fryns JP(2013)Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association Am J Med Genet A 161A 711-3359
[26]  
Merritt JL(2019)Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions Methods Mol Biol 1885 187-403
[27]  
Zou Y(2010)Prenatal diagnosis using chromosomal SNP microarrays Am J Hum Genet 86 749-485
[28]  
Jalal SM(2022)Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Front Genet 13 798607-287
[29]  
Michels VV(2019)Whole exome sequencing in 16p13.11 microdeletion patients reveals new variants through deductive and systems medicine approaches Eur J Med Genet 62 103-9773
[30]  
Nagamani SC(2019)Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication Brain 142 3351-undefined
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