PMID- 35252057
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220502
IS  - 2296-2360 (Print)
IS  - 2296-2360 (Electronic)
IS  - 2296-2360 (Linking)
VI  - 10
DP  - 2022
TI  - Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a 
      Unique Case of Mosaic Turner Syndrome.
PG  - 799284
LID - 10.3389/fped.2022.799284 [doi]
LID - 799284
AB  - BACKGROUND: The aim of this study was to explore the source and morphology of a 
      small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient 
      with a unique case of mosaic Turner syndrome. The study findings will provide 
      technical reference and genetic counseling for similar cases. CASE PRESENTATION: 
      A female patient with 46,X,+mar karyotype was diagnosed by genetic karyotype 
      analysis. Genetic methods including fluorescence in situ hybridization (FISH) and 
      copy number variation sequencing (CNV-seq) based on low-depth whole-genome 
      sequencing were used to explore the source and morphology of sSMC. FISH 
      technology showed that 56.5% of the cells were X and 43.5% of the cells were XY. 
      CNV-seq detection found that the sSMC was chrY, implying that the patient's 
      karyotype was mos 45,X[58.6%]/46,XY[41.4%]. Retrospective karyotype analysis 
      indicated that the female patient's sSMC was inherited from her father's small 
      chrY. Customized FISH probe of Yq12 microdeletion was positive, indicating that 
      the sSMC was a del(Y)(q12). Based on the results of genetic diagnosis, the 
      specialist doctor gave a comprehensive genetic consultation and ordered regular 
      follow-up examinations. CONCLUSIONS: The findings of the current study showed 
      that the chromosome description of the unique Turner case was mos 
      45,X[56.5%]/46,X,del(Y)(q12)[43.5%]. FISH technology played a key role in 
      diagnosis of mosaicism. The terminal deletion of mosaic chrY provided a 
      scientific and an accurate explanation for masculinity failure and abnormal 
      sexual development of the current case.
CI  - Copyright (c) 2022 Li, Luo, Xiao, Yang, Ou, Zhang, Huang and Zhu.
FAU - Li, Chao
AU  - Li C
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
FAU - Luo, Weiyao
AU  - Luo W
AD  - Department of Pediatric, Foshan Women and Children Hospital Affiliated to 
      Southern Medical University, Foshan, China.
FAU - Xiao, Tingting
AU  - Xiao T
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
FAU - Yang, Xingkun
AU  - Yang X
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
FAU - Ou, Miaoling
AU  - Ou M
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
FAU - Zhang, Linghua
AU  - Zhang L
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
FAU - Huang, Xiang
AU  - Huang X
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
FAU - Zhu, Xiaodan
AU  - Zhu X
AD  - Department of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated 
      to Southern Medical University, Foshan, China.
LA  - eng
PT  - Case Reports
DEP - 20220218
PL  - Switzerland
TA  - Front Pediatr
JT  - Frontiers in pediatrics
JID - 101615492
PMC - PMC8894671
OTO - NOTNLM
OT  - CNV-seq
OT  - FISH
OT  - Turner syndrome
OT  - del(Y)(q12)
OT  - sSMC
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/03/08 06:00
MHDA- 2022/03/08 06:01
PMCR- 2022/02/18
CRDT- 2022/03/07 06:07
PHST- 2021/10/21 00:00 [received]
PHST- 2022/01/10 00:00 [accepted]
PHST- 2022/03/07 06:07 [entrez]
PHST- 2022/03/08 06:00 [pubmed]
PHST- 2022/03/08 06:01 [medline]
PHST- 2022/02/18 00:00 [pmc-release]
AID - 10.3389/fped.2022.799284 [doi]
PST - epublish
SO  - Front Pediatr. 2022 Feb 18;10:799284. doi: 10.3389/fped.2022.799284. eCollection 
      2022.