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

Journal of the Korean Pediatric Society 1995;38(11):1460-1469.
Published online November 15, 1995.
Clinical Characteristics of Patients with Tumer' Syndrome according to Karyotypic Differences
Eun Young Kim1, Kyoung Sim Kim1, Kibok Kim1, Won Jin Kee2
1Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea
2Department of Cytogenetics Laboratory, Kwangju Christian Hospital, Kwangju, Korea
터너중후군의 핵형에 따른 임상양상의 차이
김은영1, 김경심1, 김기복1, 기원진2
1광주기독병원 소아과
2광주기독병원 세포유전학 검사실
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.
Key Words: Turner Syndrome, Karyotypic Differences, Clinical Characteristics


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