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Chromosomal Microarray in Children With Developmental Delay: The Experience of a Tertiary Center in Korea.
Yang, Eun Hye; Shin, Yong Beom; Choi, Soo Han; Yoo, Hye Won; Kim, Hye Young; Kwak, Min Jung; Park, Kyung Hee; Bae, Mi Hye; Kong, Ju Hyun; Lee, Yun-Jin; Nam, Sang Ook; Kim, Young Mi.
Afiliación
  • Yang EH; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Shin YB; Department of Rehabilitation, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea, Busan, South Korea.
  • Choi SH; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Yoo HW; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Kim HY; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Kwak MJ; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Park KH; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Bae MH; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
  • Kong JH; Department of Pediatrics, Pusan National University Children's Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Yangsan, South Korea.
  • Lee YJ; Department of Pediatrics, Pusan National University Children's Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Yangsan, South Korea.
  • Nam SO; Department of Pediatrics, Pusan National University Children's Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Yangsan, South Korea.
  • Kim YM; Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, South Korea.
Front Pediatr ; 9: 690493, 2021.
Article en En | MEDLINE | ID: mdl-34604135
ABSTRACT
Background and

Objectives:

Chromosomal microarray (CMA) is a first-tier genetic test for children with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCA). In this study, we report our experiences with the use of CMA in Korean children with unexplained DD/ID.

Methods:

We performed CMA in a cohort of 308 children with DD/ID between January 2010 and September 2020. We also retrospectively reviewed their medical records. The Affymetrix CytoScan 750 K array with an average resolution of 100 kb was used to perform CMA.

Results:

Comorbid neurodevelopmental disorders were ASD (37 patients; 12.0%), epilepsy (34 patients; 11.0%), and attention deficit hyperactivity disorders (12 patients; 3.9%). The diagnostic yield was 18.5%. Among the 221 copy number variants (CNVs) identified, 70 CNVs (57 patients; 18.5%) were pathogenic. Deletion CNVs were more common among pathogenic CNVs (PCNVs) than in non-PCNVs (P < 0.001). The size difference between PCNVs and non-PCNVs was not significant (P = 0.023). The number of included genes within CNV intervals was significantly higher in PCNVs (average 8.6; 0-347) than in non-PCNVs (average 47.5; 1-386) (P < 0.001). Short stature and hearing difficulty were also more common in the PCNV group than in the non-PCNV group (P = 0.010 and 0.070, respectively).

Conclusion:

This study provides additional evidence for the usefulness of CMA in genetic testing of children with DD/ID in Korea. The pathogenicity of CNVs correlated with the number of included genes within the CNV interval and deletion type of the CNVs, but not with CNV size.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur