A Cytogenetic Study in Patients with Suspected Y Chromosomal Abnormalities.
- Author:
Kwang Myung KIM
1
;
Shin Yong MOON
Author Information
1. Department of Urology, College of Medicine, Seoul National University, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
cytogenetics;
chromosomal abnormality;
Y chromosome
- MeSH:
46, XX Disorders of Sex Development;
46, XY Disorders of Sex Development;
Chromosome Aberrations*;
Chromosome Structures;
Complement System Proteins;
Cryptorchidism;
Cytogenetics*;
Down Syndrome;
Female;
Gonadal Dysgenesis, Mixed;
Humans;
Hypogonadism;
Hypospadias;
Karyotype;
Klinefelter Syndrome;
Male;
Ovotesticular Disorders of Sex Development;
Penis;
Y Chromosome
- From:Korean Journal of Urology
1985;26(6):595-604
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A chromosomal study was performed in a tota1 of 98 patients with suspected Y chromosomal abnormalities during past 1-1/2 years (Feb. 1984 -Aug. 1985). Karyotypes were obtained using short-term blood culture. Of these 43 (44%) patients had abnormal chromosome complements. Among all patients with chromosome abnormalities, 88% (38/43) had aberrations of chromosome number and others 32% (5/42) had aberrations of chromosome structure. The results of chromosomal study in various groups showed as follows: l. In 34 cases of Klinefelter's syndrome, there were 31 cases (91%) of 47,XXY, 1 case of 46,XX,47, XXY, 1 case of 48, XXXXY and 1 case of 46,XX/46,XY/47,XXY. 2. AII 3 cases of mixed gonadal dysgenesis had 45,X/46,XY. 3. l case of true hermaphroditism had 46,XX. 4. Z cases of male Turner`s syndrome, 6 cases of male pseudohermaphroditism and 1 case of agonadism had 46,XY. 5. In 6 cases of female pseudohermaphroditism, there were 4 cases of 46,XX, 1 case of 46,XX, inv(9) and 1 case of 46,XX, t (14q, 21q). 6. In 28 cases of hypogonadism (excluding Klinefelter`s syndrome), there were 25 cases (89%) of 46, XY, 1 case of 46,XY, 15s-, 1 case of 46,XY, inv(9) and 1 case of 46,XY/46, XY,t(7 : 14). 7. 1 case of cryptorchism had 47,XY,+21. 8. All of 5 cases of hypospadia, 5 cases of cryptorchism, 3 cases of hypospadia with cryptorchism, 2 cases of small phallus, 1 case of concealed penis and 1 case of normal male who wanted to correct his registered sex had 46,XY.
