Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

被引：28

作者：

Fan, Yanjie ^{[1
]}

Wu, Yanming ^{[1
,2
]}

Wang, Lili ^{[1
]}

Wang, Yu ^{[1
]}

Gong, Zhuwen ^{[1
]}

Qiu, Wenjuan ^{[1
]}

Wang, Jingmin ^{[3
]}

Zhang, Huiwen ^{[1
]}

Ji, Xing ^{[1
]}

Ye, Jun ^{[1
]}

Han, Lianshu ^{[1
]}

Jin, Xingming ^{[4
]}

Shen, Yongnian ^{[5
]}

Li, Fei ^{[4
,6
]}

Xiao, Bing ^{[1
]}

Liang, Lili ^{[1
]}

Zhang, Xia ^{[1
]}

Liu, Xiaomin ^{[1
]}

Gu, Xuefan ^{[1
]}

Yu, Yongguo ^{[1
,5
]}

机构：

[1] Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol Genet, Sch Med,Shanghai Inst Pediat Res, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China

[2] Peoples Hosp Shanghai Pudong New Dist, Dept Pediat, 490 South Chuanhuan Rd, Shanghai 201200, Peoples R China

[3] Peking Univ, Dept Pediat, Hosp 1, 8 Xishiku Dajie Xicheng Dist, Beijing 100034, Peoples R China

[4] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Dev & Behav Pediat, 1678 Dongfang Rd, Shanghai 200127, Peoples R China

[5] Shanghai Jiao Tong Univ, Dept Endocrinol, Shanghai Childrens Med Ctr, Sch Med, 1678 Dongfang Rd, Shanghai 200127, Peoples R China

[6] Shanghai Jiao Tong Univ, MOE Shanghai Key Lab Childrens Environm Hlth, Xinhua Hosp, Sch Med, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China

来源：

BMC MEDICAL GENOMICS | 2018年 / 11卷

基金：

中国国家自然科学基金;

关键词：

Chromosomal microarray; Developmental delay; Intellectual disability; Pathogenic copy number variations; Comorbid conditions; AUTISM SPECTRUM DISORDERS; COPY NUMBER VARIANTS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART-DISEASE; CLINICAL DIAGNOSTIC-TEST; ARRAY CGH; CHILD; INDIVIDUALS; STANDARDS; ANOMALIES;

D O I：

10.1186/s12920-018-0368-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among DD/ID patients with different comorbid conditions. Methods: To investigate the genotype-phenotype correlation, we examined the characteristics of identified pathogenic copy number variations (pCNVs) and compared the diagnostic yields among patient subgroups with different co-occurring conditions. Results: This study is a retrospective review of CMA results generated from a mixed cohort of 710 Chinese patients with DD/ID. A total of 247 pCNVs were identified in 201 patients (28%). A large portion of these pCNVs were copy number losses, and the size of copy number losses was generally smaller than gains. The diagnostic yields were significantly higher in subgroups with co-occurring congenital heart defects (55%), facial dysmorphism (39%), microcephaly (34%) or hypotonia (35%), whereas co-occurring conditions of skeletal malformation (26%), brain malformation (24%) or epilepsy (24%) did not alter the yield. In addition, the diagnostic yield nominally correlated with ID severity. Conclusion: Varied yields exist in DD/ID patients with different phenotypic presentation. The presence of comorbid conditions can be among factors to consider when planning CMA.

引用

页数：8

共 25 条

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