Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome
10.3760/cma.j.cn511374-20230802-00032
- VernacularTitle:罕见的6p重复伴末端缺失综合征1例患儿的临床表型及遗传学分析
- Author:
Yanhong YU
1
;
Jian LU
;
Hong LI
;
Yingying GAO
;
Xia YE
;
Xuzhuo ZHANG
;
Jingtian LU
;
Juan QIU
Author Information
1. 深圳市龙华区妇幼保健院产前诊断中心，深圳 518109
- Keywords:
DNA copy number variation;
6p duplication with terminal deletion;
G-banded karyotyping analysis;
Low-depth genome-wide copy number variation sequencing;
C
- From:
Chinese Journal of Medical Genetics
2024;41(9):1117-1123
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).Methods:A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents. Low-depth genome-wide copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) were used to screen for genome-wide copy number variation (CNV), and fluorescence in situ hybridization (FISH) was used to verify the origin of candidate CNV. This study was approved by the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City(Ethics No. 2023052504). Results:The child, an 8-year-old girl, had featured unexplained growth and intellectual development delay, multiple craniofacial malformations, and recurrent infections of the upper respiratory tract. She was found to have a karyotype of 46, XX, der(6)add(6)(q23), while both of her parents were normal. Both CNV-seq and CMA showed that the child has harbored a 21.38 Mb interstitial duplication at 6p25.3p22.3 and a 0.78 Mb terminal deletion at 6p25. FISH verified that both the duplication and deletion had occurred de novo. Conclusion:The abnormal phenotype of the child may be attributed to the 6p duplication and terminal deletion.
