Analysing result of cytogenetic tests in 24 patients with hypospadias in comparison with clinical and surgical diagnosis

Analysing cytogenetic charateristics of 24 patients with hypospadias in Vietnam National Hospital of Pediatrics from January to December 1998, comparing with clinical and surgical diagnosis. 3 children were found with chromosomal aberrations. All these children had peripheral hypospadias , 2 out of 3 children had bilateral undescend testes, 1 child had unilateral undescend testes. Chromosomal test found that: 1 child had mosaicism 46,XX(90%)/47XXY(10%); Barr bodies 8%, 2 children had 46,XX males, 1 out of these 2 children had plastic surgery for male urethra. The results of Barr bodies tests were corresponded to karyotypes. If karyotype is 46,XY, Barr bodies tests are negative; if karyotype is 46,XX, Barr bodies tests are positive

Analysis of cytogenetic nature in 21 children with undescended testes

Study on 21 children with bilaterally or unilaterally undescended testes at Vietnam National hospital of Pediatrics. These children were from 6 months to 15 years old, 90,5% of them was ≥ 3 years old. There wasn’t any disorder in quantity and structure of chromosome in all patients. They were analysed Barr bodies and results were nagative. The results were correspond to karyotyp 46, XY All patients had coresponding in clinical diagnosis and cytogenetic test diagnosis

Studying clinical and cytogenetic characteristics of the patients with Turner syndrome

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.