Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary infertility.
10.3760/cma.j.cn511374-20220409-00237
- VernacularTitle:继发不孕女性1例的Fra(16)(q22)脆性位点的遗传学分析
- Author:
Chengxiu XIE
1
;
Chonglan GAO
;
Han KANG
;
Qingsong LIU
Author Information
1. Department of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610073, China. 35590551@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
In Situ Hybridization, Fluorescence;
Chromosome Fragile Sites;
Karyotyping;
Karyotype;
Infertility
- From:
Chinese Journal of Medical Genetics
2023;40(4):495-499
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Fra(16)(q22)/FRA16B fragile site in a female with secondary infertility.
METHODS:The 28-year-old patient was admitted to Chengdu Women's and Children's Central Hospital on October 5, 2021 due to secondary infertility. Peripheral blood sample was collected for G-banded karyotyping analysis, single nucleotide polymorphism array (SNP-array), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH) assays.
RESULTS:The patient was found to harbor 5 mosaic karyotypes involving chromosome 16 in a total of 126 cells, which yielded a karyotype of mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71]. No obvious abnormality was found by SNP-array, QF-PCR and FISH analysis.
CONCLUSION:A female patient with FRA16B was identified by genetic testing. Above finding has enabled genetic counseling of this patient.
