PMID- 36854417
OWN - NLM
STAT- MEDLINE
DCOM- 20230302
LR  - 20230302
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 3
DP  - 2023 Mar 10
TI  - [Prenatal diagnosis and genetic analysis of two cases of Turner syndrome due to 
      isodicentric Xp11.22].
PG  - 368-373
LID - 10.3760/cma.j.cn511374-20210911-00743 [doi]
AB  - OBJECTIVE: To explore the genetic characteristics of idic(X)(p11.22) in Turner 
      syndrome (TS). METHODS: Two fetuses suspected for sex chromosome abnormalities or 
      ultrasound abnormalities were selected from Chengdu Women's and Children's 
      Central Hospital in October 2020 and June 2020, and amniotic fluid samples were 
      collected for G-banded chromosomal karyotyping analysis, chromosomal microarray 
      analysis (CMA), and fluorescence in situ hybridization (FISH). RESULTS: The two 
      fetuses were respectively found to have a karyotype of 45,X[47]/46,X,psu 
      idic(X)(p11.2)[53] and 46,X,psu idic(X)(p11.2). CMA found that both had deletions 
      in the Xp22.33p11.22 region and duplications in the p11.22q28 region. FISH showed 
      that the centromeres in both fetuses had located on an isochromosome. CONCLUSION: 
      The combination of karyotyping analysis, FISH, and CMA is useful for the 
      delineation of complex structural chromosomal aberrations. High-resolution CMA 
      can accurately identify chromosomal breakpoints, which can provide a clue for 
      elucidating the mechanism of chromosomal breakage and rearrangement.
FAU - Wang, Lingxi
AU  - Wang L
AD  - Prenatal Diagnosis Center, Chengdu Women's and Children's Central Hospital, 
      School of Medicine, University of Electronic Science and Technology of China, 
      Chengdu, Sichuan 610073, China. wuyong633@163.com.
FAU - Kang, Han
AU  - Kang H
FAU - Hu, Yu
AU  - Hu Y
FAU - Wu, Yong
AU  - Wu Y
LA  - chi
PT  - Case Reports
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  - Female
MH  - Pregnancy
MH  - Humans
MH  - *Turner Syndrome/diagnosis/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Sex Chromosome Aberrations
MH  - Centromere
MH  - Prenatal Diagnosis
EDAT- 2023/03/01 06:00
MHDA- 2023/03/03 06:00
CRDT- 2023/02/28 19:23
PHST- 2023/02/28 19:23 [entrez]
PHST- 2023/03/01 06:00 [pubmed]
PHST- 2023/03/03 06:00 [medline]
AID - 940640069 [pii]
AID - 10.3760/cma.j.cn511374-20210911-00743 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Mar 10;40(3):368-373. doi: 
      10.3760/cma.j.cn511374-20210911-00743.