PMID- 33693446
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210312
IS  - 2699-9404 (Electronic)
IS  - 2699-9404 (Linking)
VI  - 7
IP  - 4
DP  - 2020 Dec
TI  - Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) 
      in a Mosaic Turner Syndrome Case.
PG  - 128-132
LID - 10.1055/s-0041-1722974 [doi]
AB  - Purpose  Turner syndrome is a sex chromosomal aberration where majority of the 
      patients have 45,X karyotype, while several patients are mosaic involving 
      45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is 
      considered to be the "gold standard" to detect numerical and structural 
      chromosomal abnormalities. In the recent years, alternative approaches, such as 
      array comparative genomic hybridization (aCGH), have been widely used in genetic 
      analysis to detect numerical abnormalities as well as unbalanced structural 
      rearrangements. In this study, we report the use of karyotyping as well as aCGH 
      in detecting a possible Turner syndrome variant. Methods  An apparent 16-year-old 
      female was clinically diagnosed as Turner syndrome with premature ovarian failure 
      and short stature. The genetic diagnosis was performed for the patient and the 
      parents by karyotyping analysis. aCGH was also performed for the patient. Main 
      Findings  Cytogenetic analysis of the patient was performed showing variant 
      Turner syndrome (46,X,i(X)(q10)[26]/46,X,del(X)(q11.2)[11]/45,X[8]/46,XX[5]). The 
      patient's aCGH result revealed that she has a deletion of 57,252kb of 
      Xp22.33-p11.21 region; arr[GRCh37] Xp22.33-p11.21 (310,932-57,563-078)X1. Both 
      aCGH and fluorescence in situ hybridization (FISH) results suggested that short 
      stature Homeobox-containing ( SHOX ) gene, which is located on Xp22.33, was 
      deleted, though FISH result indicated that this was in a mosaic pattern. 
      Conclusion  In the recent years, aCGH has become the preferred method in 
      detecting numerical abnormalities and unbalanced chromosomal rearrangements. 
      However, its use is hindered by its failure of detecting mosaicism, especially 
      low-level partial mosaicism. Therefore, although the resolution of the aCGH is 
      higher, the cytogenetic investigation is still the first in line to detect 
      mosaicism.
CI  - The Author(s). This is an open access article published by Thieme under the terms 
      of the Creative Commons Attribution License, permitting unrestricted use, 
      distribution, and reproduction so long as the original work is properly cited. ( 
      https://creativecommons.org/licenses/by/4.0/ ).
FAU - Tulay, Pinar
AU  - Tulay P
AD  - Near East University, Faculty of Medicine, Department of Medical Genetics, 
      Nicosia, Cyprus.
AD  - Near East University, DESAM Institute, Nicosia, Cyprus.
FAU - Ergoren, Mahmut Cerkez
AU  - Ergoren MC
AD  - Near East University, Faculty of Medicine, Department of Medical Genetics, 
      Nicosia, Cyprus.
AD  - Near East University, DESAM Institute, Nicosia, Cyprus.
FAU - Alkaya, Ahmet
AU  - Alkaya A
AD  - Bilecik Seyh Edebali University, Graduate School of Applied Sciences, Gulumbe 
      Yerleskesi, Bilecik, Turkey.
FAU - Yayci, Eyup
AU  - Yayci E
AD  - Near East University, Faculty of Medicine, Department of Gynecology and 
      Obstetrics, Nicosia, Cyprus.
FAU - Sag, Sebnem Ozemri
AU  - Sag SO
AD  - Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, 
      Turkey.
FAU - Temel, Sehime Gulsum
AU  - Temel SG
AD  - Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, 
      Turkey.
AD  - Uludag University, Faculty of Medicine, Department of Histology and Embryology, 
      Bursa, Turkey.
LA  - eng
PT  - Case Reports
DEP - 20210211
PL  - Germany
TA  - Glob Med Genet
JT  - Global medical genetics
JID - 101769583
PMC - PMC7938938
OTO - NOTNLM
OT  - aCGH
OT  - cytogenetics
OT  - mosaicism
OT  - partial mosaicism
OT  - turner syndrome
COIS- Conflict of Interest None declared.
EDAT- 2021/03/12 06:00
MHDA- 2021/03/12 06:01
PMCR- 2021/02/11
CRDT- 2021/03/11 06:42
PHST- 2021/03/11 06:42 [entrez]
PHST- 2021/03/12 06:00 [pubmed]
PHST- 2021/03/12 06:01 [medline]
PHST- 2021/02/11 00:00 [pmc-release]
AID - 2000024 [pii]
AID - 10.1055/s-0041-1722974 [doi]
PST - ppublish
SO  - Glob Med Genet. 2020 Dec;7(4):128-132. doi: 10.1055/s-0041-1722974. Epub 2021 Feb 
      11.