PMID- 34868795
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231108
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 13
IP  - 11
DP  - 2021 Nov
TI  - Y Chromosome Material in Turner Syndrome.
PG  - e19977
LID - 10.7759/cureus.19977 [doi]
LID - e19977
AB  - Background Turner Syndrome (TS) is a frequently identified chromosomal disease in 
      humans characterized by short stature, sexual infantilism, streak gonads, primary 
      amenorrhea, and a number of somatic anomalies. Approximately 55% of TS 
      individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y 
      chromosome is present in 5% of patients, which is undetectable by the standard 
      cytogenetic analysis. The identification of Y chromatin in some TS individuals 
      has been associated with the development of gonadoblastoma. Therefore, it is 
      important to exclude the presence of Y chromatin in TS individuals. In this 
      study, it was planned to detect cases with mosaicism in terms of Y chromatin with 
      the help of Y whole chromosome probes (WCP) from individuals with TS by 
      fluorescence in situ hybridization (FISH) analysis. Methodology Forty-four 
      patients with Turner syndrome, who were being followed up in the Genetics Unit, 
      were contacted and invited for the study. Of the 44 invited patients, 28 
      responded to the invitation. In this study, it was planned to detect TS patients 
      with mosaicism in terms of Y chromatin with the help of the Y whole chromosome 
      probe. Results The majority of the cases (71.42%) included in the study carried 
      pure X monosomy, which is the classical Turner syndrome karyotype. Other 
      structural X chromosome aberrations, in isolated or mosaic forms, were less 
      frequently represented. Y chromosome sequences were searched in 28 cases with 
      Turner syndrome by the FISH method using Y whole chromosome probe. Y chromosome 
      sequence was detected in one (3.5%) case of 28 cases. Conclusions It is 
      recommended that individuals with Turner syndrome be screened for Y chromatin. 
      Detection of this will provide information and guidance to individuals with 
      Turner syndrome, especially in terms of the risk of developing gonadoblastoma, 
      with advanced clinical consultation. This study was conducted to emphasize the 
      importance of this.
CI  - Copyright (c) 2021, Akcan et al.
FAU - Akcan, Abdullah Baris
AU  - Akcan AB
AD  - Department of Pediatrics, Division of Neonatology, Aydin Adnan Menderes 
      University Faculty of Medicine, Aydin, TUR.
FAU - Boduroglu, Osman K
AU  - Boduroglu OK
AD  - Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University 
      Faculty of Medicine, Ankara, TUR.
LA  - eng
PT  - Journal Article
DEP - 20211129
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC8628189
OTO - NOTNLM
OT  - fish
OT  - gonadoblastoma
OT  - mosaicism
OT  - turner syndrome
OT  - y chromosome
COIS- The authors have declared that no competing interests exist.
EDAT- 2021/12/07 06:00
MHDA- 2021/12/07 06:01
PMCR- 2021/11/29
CRDT- 2021/12/06 09:16
PHST- 2021/11/28 00:00 [accepted]
PHST- 2021/12/06 09:16 [entrez]
PHST- 2021/12/07 06:00 [pubmed]
PHST- 2021/12/07 06:01 [medline]
PHST- 2021/11/29 00:00 [pmc-release]
AID - 10.7759/cureus.19977 [doi]
PST - epublish
SO  - Cureus. 2021 Nov 29;13(11):e19977. doi: 10.7759/cureus.19977. eCollection 2021 
      Nov.