Clinical and genetic analysis of a case with 2p23.2p22.1 duplication
10.3760/cma.j.cn511374-20240628-00359
- VernacularTitle:2p23.2p22.1重复1例患者的临床表型及遗传学分析
- Author:
Leilei GU
1
;
Xiangyu ZHU
1
;
Wei LIU
1
;
Jie LI
1
Author Information
1. 南京大学医学院附属鼓楼医院妇产医学中心，南京 210008
- Publication Type:Journal Article
- Keywords:
Chromosomal microarray analysis;
2p23.2p22.1 duplication;
Genotype-phenotype correlation
- From:
Chinese Journal of Medical Genetics
2024;41(12):1491-1495
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report on the phenotype of an adult patient with 2p23.2p22.1 duplication and explore its genotype-phenotype correlation.Methods:A pregnant woman who had presented at the Affiliated Drum Tower Hospital of Nanjing University Medical School on January 12, 2024 for a high risk signaled by NIPT was selected as the study subject. Amniotic fluid and peripheral blood samples were collected and subjected to chromosomal microarray analysis (CMA). The phenotype of the patient was observed, the medical history was taken, combined with the result of CMA assay, relevant database was searched for similar cases reported in the literature, and the correlation between genotype and phenotype was analyzed.Results:The CMA result of the patient was arr[GRCh38]2p23.2p22.1(27961669_39280633)×3, which indicated a 11.31 Mb duplication. The woman was found to have short stature, learning disability, visual deficit, sleep disorder and other disorders.Conclusion:The duplication of PPP1CB and SOS1 genes within the 2p23.2p22.1 region can result in Noonan syndrome-like clinical manifestations such as short stature and reduced visual acuity. The duplication of the PPP1CB gene may be associated with the abnormal visual phenotype.
