Comparison of detection rates of chromosome G-banding karyotype analysis and fluorescence in situ hybridization among children with sex chromosome mosaicisms.
10.3760/cma.j.cn511374-20211111-00897
- VernacularTitle:G显带核型分析与荧光原位杂交在性染色体嵌合儿童中符合率的比较
- Author:
Weiwei XIAO
1
;
Juan HUANG
;
Wei LIU
;
Bing LI
;
Zhe SU
;
Lili PAN
;
Yunsheng CHEN
Author Information
1. Department of Laboratory Medicine, Shenzhen Children's Hospital, Shenzhen, Guangdong 518034, China. chenyunshenglw@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Mosaicism;
In Situ Hybridization, Fluorescence/methods*;
Retrospective Studies;
Karyotyping;
Chromosome Aberrations;
Sex Chromosome Aberrations;
Karyotype;
Chromosome Banding;
Sex Chromosomes
- From:
Chinese Journal of Medical Genetics
2023;40(1):12-16
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms.
METHODS:A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared.
RESULTS:The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05).
CONCLUSION:No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
