Evaluation of Two Cases With 45,1 / 46,X, i(Xq) and 46,X, i(Xq) Karyotypes

AYNUR ACAR, İbrahim Erkul, Sennur Demirel, HASAN ACAR, TÜLİN ÇORA, Said Gönen

  • AYNUR ACAR: SELÇUK ÜNİVERSİTESİ
  • İbrahim Erkul: Selçuk Üniversitesi Meram Tıp Fakültesi
  • Sennur Demirel: Selçuk Üniversitesi Meram Tıp Fakültesi
  • HASAN ACAR: SELÇUK ÜNİVERSİTESİ
  • TÜLİN ÇORA: SELÇUK ÜNİVERSİTESİ
  • Said Gönen: Selçuk Üniversitesi Tıp Fakültesi
  • Year : 1990
  • Vol : 6
  • Issue : 3
  •  Page : 315-319
A 12 years old fernak case who was one of the twin sisters and the other 20 years old female case with growth deficiency and lack of menstrual period were referred to our laboratory for possible Turner Syndrome. The first case whose twin sister had normal growth and development with 46, XX karyotype, had a karyotype of 45,X146,X,i (Xq). The karyotype of second female case was 46,X,i (Xq). Cytogenetical findings evaluated together with their cilinical features enabled to distinguish structural anomaly of X chromosomes from the classical 45X Turner syndrome, and the importance of the correlation of phenotype to karyotype is discussed in this article

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Conflict of interest : Yok
This article is published under the CC BY-NC 4.0 license.
Selcuk Medical Journal
1990, Vol. 6 (3)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :