Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review
10.3760/cma.j.cn511374-20231122-00270
- VernacularTitle:18q末端缺失综合征伴主动脉瓣关闭不全1例患儿的遗传学分析及文献回顾
- Author:
Huimin CUI
1
;
Fang ZHANG
;
Ting YIN
;
Zhiwei WANG
;
Xin WANG
;
Qingqing GU
;
Jinglu ZHANG
;
Juan TAN
Author Information
1. 连云港市妇幼保健院，连云港 222000
- Keywords:
Aortic requrgitation;
18q terminal deletion;
G-banded chromosomal karyotyping;
Abnormal cardiac development;
Chromosomal microarray analysis
- From:
Chinese Journal of Medical Genetics
2024;41(10):1259-1263
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic characteristics of a child with 18q terminal deletion syndrome.Methods:Clinical data of a child presented at the Lianyungang Maternal and Child Health Care Hospital on July 20, 2023 was collected. Peripheral blood sample from the child was subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). Relevant literature was searched from CNKI, WanFang and PubMed databases over the past decade (from November 1, 2013 to November 1, 2023) using keywords including "18q-syndrome", "18q deletion syndrome" and "18q terminal deletion". This study was approved by Medical Ethics Committee of the Lianyungang Maternal and Child Health Care Hospital (Ethics No. LYG-MER2021017).Results:The child, a 4-year-and-6-month-old female, had manifested short stature, intellectual disability, distinctive facial features, aortic regurgitation, auditory canal atresia, and white matter lesions. She was found to have a karyotype of 46, XX, del(18)(q21), whilst the result of CMA was arr[GRCh37]18q21.33q23(60065821_77317445)×1. Both of her parents were found to have a normal karyotype. Literature review has retrieved 7 reports which involved 11 cases with a terminal 18q23 deletion. The phenotypes of cardiac abnormalities have been diverse, with pulmonary stenosis, atrial septal defect and ventricular septal defect being most common.Conclusion:The 18q terminal deletion probably underlay the multiple congenital anomalies and mental retardation in this child.
