Genetic analysis of four individuals harboring a 16q22 fragile site
10.3760/cma.j.cn511374-20241217-00658
- VernacularTitle:16q22脆性位点携带者4例的遗传学分析
- Author:
Xiaoxiao HUANG
1
;
Rong QIANG
1
;
Yuan LIU
1
;
Xue BAI
1
;
Shuxian LI
1
;
Qiujie JIN
1
;
Qingting BU
1
Author Information
1. 西北妇女儿童医院医学遗传中心，西安 710061
- Publication Type:Journal Article
- Keywords:
Chromosome karyotyping;
Fragile site;
16q22
- From:
Chinese Journal of Medical Genetics
2025;42(4):500-504
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
