Studying clinical and cytogenetic characteristics of the patients with Turner syndrome
- Author:
Phan Thi Hoan
- Publication Type:Journal Article
- Keywords:
Turner syndrome;
Clinical symptom;
Cytogenetics
- MeSH:
Turner Syndrome, Cytogenetics
- From:Journal of Medical Research
2005;39(6):31-36
- CountryViet Nam
- Language:Vietnamese
-
Abstract:
Turner syndrome is the most common gender chromosome abnormalities. The sooner treatment have the more effective it is. Objectives: 1. Analysing clinical characteristics of patients with Turner syndrome; 2. Analysing characteristics chromosomes and Barr bodies of patients with Turner syndrome. Methods: 38 females patients were analysed for chromosomes and Barr bodies at the Department of Medical Biology and Genetics-Hanoi Medical University. Results: Clinical characteristics: 29/38 patients at ages >=13; 37/38 patients have short stature; 29/29 patients (ages >=13) have short stature, sexual infantilism and lack of secondary sexual characteristics; 12/12 patients (ages >18) who are in primary amenorrhea. Cytogenetics: 20/38 patients have karyotype 45,X; Barr body (-); 3/38: 46,X,i(Xq); Barr bodies (+). 15/38 patients have Turner syndrome mosaicism: 45,x/46,XX; 45,x/47,XXX; 45,x/46,X,i(Xq); 45,x/46,XY. Conclusion: Almost pattients were diagnosed Turner syndrome after the age of puberty. Types of karyotype: 20/38 patients: 45,X; 3/38: 46,X,i(Xq); 15/38: Turner syndrome mosaicism with 2 cell lines: 1 line is 45,X and the other is either normal or abnormal.
