Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present-Reference-Cited by-同舟云学术

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present

Published:2020-05-29 Issue:5 Volume:19 Page:629-635
ISSN:1473-4222
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Ciaccio Claudia^ORCID,Pantaleoni Chiara,Bulgheroni Sara,Sciacca Francesca,D’Arrigo Stefano

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12311-020-01145-3.pdf

Reference29 articles.

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2. D'Arrigo S, Gavazzi F, Alfei E, Zuffardi O, Montomoli C, Corso B, et al. The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children. J Child Neurol. 2016;31(6):691–9. https://doi.org/10.1177/0883073815613562.

3. Fan Y, Wu Y, Wang L, Wang Y, Gong Z, Qiu W, et al. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. BMC Med Genet. 2018;11(1):49. https://doi.org/10.1186/s12920-018-0368-4.

4. Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, et al. Chromosomal microarray with clinical diagnostic utility in children with developmental delay or intellectual disability. Ann Lab Med. 2018;38(5):473–80. https://doi.org/10.3343/alm.2018.38.5.473.

5. Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, et al. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet. 2014;55(1):125–44. https://doi.org/10.1007/s13353-013-0181-x.

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