PMID- 37994144
OWN - NLM
STAT- MEDLINE
DCOM- 20231124
LR  - 20231124
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 12
DP  - 2023 Dec 10
TI  - [Genetic analysis of a child with mosaicism Turner syndrome].
PG  - 1566-1569
LID - 10.3760/cma.j.cn511374-20220928-00651 [doi]
AB  - OBJECTIVE: To explore the genetic characteristics of a child with mosaicism 
      Turner syndrome. METHODS: A child who had presented at Linyi People's Hospital on 
      May 19, 2022 due to short stature was selected as the study subject. The child 
      was subjected to combined chromosomal karyotyping, fluorescence in situ 
      hybridization (FISH), and chromosomal microarray analysis (CMA). RESULTS: The 
      child was found to have a 46,X,i(X)(q10)[94]/45,X[6] karyotype. The result of 
      FISH was nucish(XYpter,XYqter)1[78]/(XYpter)1,(XYqter)3[122]. CMA result for her 
      peripheral blood sample was arr[hg19]Xp22.33p11.1(168551_58526888)x1, and that 
      for her oral mucosal cells was 
      arr[hg19]Xp22.33p11.1(168551_58526888)1-2,Xq11.2q28(63000001_155233098)x2-3. By 
      integrating the above findings, her molecular karyotype was determined as mos 
      46,X,i(X)(q10)[94]/45,X[6].arr[hg19]Xp22.33p11.1(168551_58526888)x1-2,Xq11.2q28(63000001_155233098)x2-3.nucish(XYpter)1,(XYqter)3[122]/(XYpter,XYqter)1[78], 
      which has indicated mosaicism Turner syndrome. CONCLUSION: The 
      46,X,i(X)(q10)/45,X mosaicism probably underlay the pathogenesis in this child.
FAU - Gao, Jingzhen
AU  - Gao J
AD  - Department of Obstetrics and Gynecology, Linyi People's Hospital, Linyi, Shandong 
      276034, China. lilinxy1996@sina.com.
FAU - Zhao, Jingjing
AU  - Zhao J
FAU - Zhao, Xiangyu
AU  - Zhao X
FAU - Li, Lin
AU  - Li L
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  - Child
MH  - Female
MH  - *Turner Syndrome/genetics
MH  - Mosaicism
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Karyotype
EDAT- 2023/11/23 06:42
MHDA- 2023/11/24 06:43
CRDT- 2023/11/23 03:51
PHST- 2023/11/24 06:43 [medline]
PHST- 2023/11/23 06:42 [pubmed]
PHST- 2023/11/23 03:51 [entrez]
AID - 940640247 [pii]
AID - 10.3760/cma.j.cn511374-20220928-00651 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1566-1569. doi: 
      10.3760/cma.j.cn511374-20220928-00651.