PMID- 35361246
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220404
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 15
IP  - 1
DP  - 2022 Mar 31
TI  - Characterization of a rare mosaic X-ring chromosome in a patient with Turner 
      syndrome.
PG  - 15
LID - 10.1186/s13039-022-00593-2 [doi]
LID - 15
AB  - BACKGROUND: Ring chromosomes can be formed by terminal breaks of two arms of a 
      chromosome and their rejoining, leading to a loss of genetic material. They may 
      also be formed by telomere-telomere fusions with no deletion, resulting in the 
      formation of a complete ring. Mosaic X-ring chromosomes are extremely rare and 
      have highly variable phenotypes. Here, we report a case with a mosaic X-ring 
      chromosome in a patient with Turner syndrome, and we illustrate the unreported 
      complicated mechanism using chromosome analysis and fluorescence in situ 
      hybridization (FISH). CASE PRESENTATION: A 10-year-old girl of short stature 
      presenting Turner syndrome was admitted to our hospital. The patient's clinical 
      characteristics were subsequently documented. Genetic analysis showed a karyotype 
      of mostly 45,X[140]/46,X,r(X)[60]. The X ring chromosome was cytogenetically 
      characterized as 45,X/46,X,r(X)(p22.32q21.1), with a length of approximately 
      74 Mb. CONCLUSIONS: Taken together, we report a rare case with a mosaic X ring 
      chromosome in Turner syndrome and we believe this case expands our collective 
      knowledge of mosaic structural chromosomal disorders and provides new insight 
      into clinical management and genetic counseling for Turner syndrome.
CI  - (c) 2022. The Author(s).
FAU - Luo, Hunjin
AU  - Luo H
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China. 490824805@qq.com.
FAU - Ni, Liu
AU  - Ni L
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Yang, Yi-Qiong
AU  - Yang YQ
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Zhang, Xiao-Min
AU  - Zhang XM
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Huang, Hongping
AU  - Huang H
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Tan, Sainan
AU  - Tan S
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Ling, Chen
AU  - Ling C
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Liang, Li
AU  - Liang L
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Wang, Ling
AU  - Wang L
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Dan, Tang
AU  - Dan T
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Zhou, Shu-Xiang
AU  - Zhou SX
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
FAU - Yang, Chunliu
AU  - Yang C
AD  - Women and Children Healthcare Hospital of Zhuzhou, No. 128 Che Zhan Road, 
      Zhuzhou, 412000, Hunan Province, China.
LA  - eng
GR  - 2019JJ60080/Natural Science Foundation of Hunan Province/
PT  - Journal Article
DEP - 20220331
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC8973883
OTO - NOTNLM
OT  - Chromosome microarray analysis
OT  - Fluorescence in situ hybridization
OT  - Ring X chromosome
OT  - Turner syndrome
COIS- The authors declare that they have no competing interests.
EDAT- 2022/04/02 06:00
MHDA- 2022/04/02 06:01
PMCR- 2022/03/31
CRDT- 2022/04/01 05:31
PHST- 2022/03/02 00:00 [received]
PHST- 2022/03/22 00:00 [accepted]
PHST- 2022/04/01 05:31 [entrez]
PHST- 2022/04/02 06:00 [pubmed]
PHST- 2022/04/02 06:01 [medline]
PHST- 2022/03/31 00:00 [pmc-release]
AID - 10.1186/s13039-022-00593-2 [pii]
AID - 593 [pii]
AID - 10.1186/s13039-022-00593-2 [doi]
PST - epublish
SO  - Mol Cytogenet. 2022 Mar 31;15(1):15. doi: 10.1186/s13039-022-00593-2.