Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study.
10.3349/ymj.2013.54.6.1463
- Author:
Cha Gon LEE
1
;
Sang Jin PARK
;
Jun No YUN
;
Jung Min KO
;
Hyon Ju KIM
;
Shin Young YIM
;
Young Bae SOHN
Author Information
1. Department of Pediatrics, Eulji General Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Array CGH;
copy number variations;
developmental delay;
intellectual disability
- MeSH:
Adolescent;
Adult;
Child;
Child, Preschool;
Comparative Genomic Hybridization/*methods;
Female;
Gene Dosage/genetics;
Humans;
Infant;
Intellectual Disability/*genetics;
Karyotype;
Male;
Republic of Korea;
Retrospective Studies;
Tertiary Healthcare/statistics & numerical data;
Young Adult
- From:Yonsei Medical Journal
2013;54(6):1463-1470
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. MATERIALS AND METHODS: We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. RESULTS: A total of 190 patients were identified. Mean age was 5.1+/-1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. CONCLUSION: Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
