PMID- 36584993
OWN - NLM
STAT- MEDLINE
DCOM- 20230103
LR  - 20230103
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 1
DP  - 2023 Jan 10
TI  - [Comparison of detection rates of chromosome G-banding karyotype analysis and 
      fluorescence in situ hybridization among children with sex chromosome 
      mosaicisms].
PG  - 12-16
LID - 10.3760/cma.j.cn511374-20211111-00897 [doi]
AB  - 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.
FAU - Xiao, Weiwei
AU  - Xiao W
AD  - Department of Laboratory Medicine, Shenzhen Children's Hospital, Shenzhen, 
      Guangdong 518034, China. chenyunshenglw@163.com.
FAU - Huang, Juan
AU  - Huang J
FAU - Liu, Wei
AU  - Liu W
FAU - Li, Bing
AU  - Li B
FAU - Su, Zhe
AU  - Su Z
FAU - Pan, Lili
AU  - Pan L
FAU - Chen, Yunsheng
AU  - Chen Y
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Humans
MH  - *Mosaicism
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Retrospective Studies
MH  - Karyotyping
MH  - *Chromosome Aberrations
MH  - Sex Chromosome Aberrations
MH  - Karyotype
MH  - Chromosome Banding
MH  - Sex Chromosomes
EDAT- 2022/12/31 06:00
MHDA- 2023/01/04 06:00
CRDT- 2022/12/30 20:12
PHST- 2022/12/30 20:12 [entrez]
PHST- 2022/12/31 06:00 [pubmed]
PHST- 2023/01/04 06:00 [medline]
AID - 940640003 [pii]
AID - 10.3760/cma.j.cn511374-20211111-00897 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):12-16. doi: 
      10.3760/cma.j.cn511374-20211111-00897.