[Comparison of detection rates of chromosome G-banding karyotype analysis and fluorescence in situ hybridization among children with sex chromosome mosaicisms].

• DOI: 10.3760/cma.j.cn511374-20211111-00897
• Publication Date: 2023-01-10
• Authors: Weiwei Xiao; Juan Huang; Wei Liu; Bing Li; Zhe Su; Lili Pan; Yunsheng Chen
• Keywords: Chromosome analysis

To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for diagnosis children with sex chromosome mosaicisms.A retrospective was carried out 157 suspected abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase FISH karyotyping results were collected. The two methods mosaicisms compared.The detection rates 26.1% (41/157) 22.9% (36/157) , respectively (P > 0.05). showed that 141 cases (89.8%) homogeneity group, which only 5 (3.5%) inconsistent FISH. There 16 (10.2%) mosaicism 11 (68.8%) a statistical difference between groups < 0.05).No significant found abnormalities. group lower than statistically significant. should be combined clinical diagnosis.