All issues > Volume 38(11); 1995

Original Article

J Korean Pediatr Soc. 1995;38(11):1460-1469. Published online November 15, 1995.

Clinical Characteristics of Patients with Tumer' Syndrome according to Karyotypic Differences

Eun Young EY Kim¹, Kyoung Sim KS Kim¹, Kibok Kb Kim¹, Won Jin WJ Kee²

¹Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea
²Department of Cytogenetics Laboratory, Kwangju Christian Hospital, Kwangju, Korea

Abstract

Purpose
: To assess the differences of clinical features according to various karyotypes in Turner syndrome.
Methods
: Subjected to study were 45 patients with Turner syndrome, including 5 newborns, from March 1974 to April 1994. They were divided into 3 groups according to karyotypes: 45,X, mosaicism, and structural aberration; and the clinical features were compared. Also structural aberration groups, 46,XXp-and 46,X,i(Xq) were compared as to their phenotypic characteristics.
Results
: 1) Turner syndrome (n=45) comprised 51.7% of all sex chromosome anomalies (n=87). 2) Numerical aberration was found in 55.6%. Among them, typical Turner syndrome (45,X) was the most common (n=14; 31.1%), followed by mosaicisms: 45,X/46,XX (n=5; 11.1%), 45,X/46,XX/47,XXX (n=2; 4.5%), 45,X/47,xxX (n=l; 2.2%), and 45,X/46,XY (n=3; 6.7%). Structural aberrations consisted of 46,XXp- (n=12; 26.7%), 46,X,i(Xq) (n=7; 15.5%), and 46,XXq- (n=l; 2.2%). 3) Among 40 patients excluding newborns, the median age was 22.3 years (range 15-41). All patients with 45,X showed short stature with the mean of 139.2 cm, while 90% of mosaicism cases (mean: 142.5 cm) and 50% of structural aberration cases had short stature (p<0.05, 45,X vs SA). Structural aberration cases had significantly (p<0.05) lower incidences of shield chest, pigmented nevi, webbed neck, and hypoplastic nails than 45,X group. Those with 46,XXp- showed lower incidences of short stature and short 4th and 5th metacarpals than those with 46,X,i(Xq) (p<0.05). The incidence of webbed neck was the only difference between 45,X and mosaicism (p<0.05). However, no difference was found in the incidence of clinical features between moaicism and structural aberrations.
Conclusion
: In Turner syndrome, patients with structural aberration and mosaicism tended to have milder clinical features than those with 45,X karyotype, and among the structural aberration cases, those with 46,XXp- were milder than the 46,X,i(Xq) cases.

Keywords :Turner Syndrome, Karyotypic Differences, Clinical Characteristics