ANALYSIS OF THE SRY GENE IN A GIRL WITH 45,X/46,XY GENOTYPE

Akbas E., Soylemez F., Hallioglu O., Polat S., Turkoz G.

GENETIC COUNSELING, vol.20, no.3, pp.249-254, 2009 (SCI-Expanded, Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2009
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.249-254
  • Keywords: Sex Chromosome Mosaicism, Turner Syndrome, SRY gene, TURNER-SYNDROME, SEQUENCES
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

Analysis of the SRY gene in a girl with 45,X/46,XY genotype: We present a Turner syndrome patient with a 45, X/46, XY mosaicism. A seven years-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination, short stature, a webbed neck, a broad chest with widely spaced nipples, syndactyly on toes, horse shoe kidney and typical findings of aortic coarctation were present, The chromosome karyotype of the patient was 45 X/46 XY. Molecular analysis of the blood lymphocytes confirmed the presence of the SRY gene of the patient. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.