Annals of Rehabilitation Medicine

"Myungshin Kim"

Original Article

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development: Kee-Boem Park, Kyung Eun Nam, Ah-Ra Cho, Woori Jang, Myungshin Kim, Joo Hyun Park; Ann Rehabil Med 2019;43(2):215-223. Published online April 30, 2019; DOI: https://doi.org/10.5535/arm.2019.43.2.215

Abstract
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Objective
To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development.
Methods
A retrospective chart review was done for 65 children who underwent array-comparative genomic hybridization after visiting physical medicine & rehabilitation department of outpatient clinic with delayed development as chief complaints. Children were evaluated with Denver Developmental Screening Test II (DDST-II), Sequenced Language Scale for Infants (SELSI), or Preschool Receptive-Expressive Language Scale (PRES). A Mann-Whitney U test was conducted to determine statistical differences of developmental quotient (DQ), receptive language quotient (RLQ), and expressive language quotient (ELQ) between children with CNV (CNV(+) group, n=16) and children without CNV (CNV(–) group, n=37).
Results
Of these subjects, the average age was 35.1 months (mean age, 35.1±24.2 months). Sixteen (30.2%) patients had copy number variations. In the CNV(+) group, 14 children underwent DDST-II. In the CNV(–) group, 29 children underwent DDSTII. Among variables, gross motor scale was significantly (p=0.038) lower in the CNV(+) group compared with the CNV(–) group. In the CNV(+) group, 5 children underwent either SELSI or PRES. In the CNV(–) group, 27 children underwent above language assessment examination. Both RLQ and ELQ were similar between the two groups.
Conclusion
The gross motor domain in DQ was significantly lower in children with CNV compared to that in children without CNV. This result suggests that additional genetic factors contribute to this variability. Active detection of genomic imbalance could play a vital role when prominent gross motor delay is presented in children with delayed development.

Citations

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Advanced Genetics.2023;[Epub] CrossRef
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Frontiers in Genetics.2023;[Epub] CrossRef
CNV profiles of Chinese pediatric patients with developmental disorders
Haiming Yuan, Shaofang Shangguan, Zhengchang Li, Jingsi Luo, Jiasun Su, Ruen Yao, Shun Zhang, Chen Liang, Qian Chen, Zhijie Gao, Yanli Zhu, Shujie Zhang, Wei Li, Weiliang Lu, Yu Zhang, Hua Xie, Fang Liu, Qingming Wang, Yangyang Lin, Liying Liu, Xiuming Wa
Genetics in Medicine.2021; 23(4): 669. CrossRef
Copy Number Variation: Methods and Clinical Applications
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Applied Sciences.2021; 11(2): 819. CrossRef

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Case Report

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3: Asayeon Choi, Ja-Young Oh, Myungshin Kim, Woori Jang, Dae-Hyun Jang; Ann Rehabil Med 2017;41(5):881-886. Published online October 31, 2017; DOI: https://doi.org/10.5535/arm.2017.41.5.881

Abstract
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Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.

Citations

Citations to this article as recorded by

Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
Liliana Fernández-Hernández, María José Navarro-Cobos, Miguel Angel Alcántara-Ortigoza, Sandra Elena Ramos-Ángeles, Bertha Molina-Álvarez, Sinhué Díaz-Cuéllar, Bárbara Asch-Daich, Ariadna González-del Angel
Molecular Cytogenetics.2019;[Epub] CrossRef