Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

Tulay P., Ergoren M. C. , Alkaya A., Yayci E., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

GLOBAL MEDICAL GENETICS, vol.7, no.4, pp.128-132, 2020 (Peer-Reviewed Journal) identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1055/s-0041-1722974
  • Journal Indexes: Emerging Sources Citation Index
  • Page Numbers: pp.128-132
  • Keywords: turner syndrome, mosaicism, partial mosaicism, aCGH, cytogenetics, CHROMOSOMAL MOSAICISM, IMBALANCES, WOMEN, CARE, CGH


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.