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A Cytogenetic Study in Patients with Sex Chromosome Abnormalities

Korean Journal of Pediatrics 2005;48(12):1317-1323.
Published online December 15, 2005.
A Cytogenetic Study in Patients with Sex Chromosome Abnormalities
Hyun Ji Seo1, Ji Hye Lee1, Heung Kyo Lee1, Seung Hee Jung2, Kun Soo Lee1
1Department of Pediatrics, Kyungpook National University, College of Medicine, Daegu
2Jung Pediatric Clinic, Ansan, Korea
성염색체이상증후군의 핵형 분석
서현지1, 이지혜1, 이흥교1, 정승희2, 이건수1
1경북대학교 의과대학 소아과학교실
2정 소아과
Correspondence: 
Kun Soo Lee, Email: kslee@mail.knu.ac.kr
Abstract
Purpose
: This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis.
Methods
: Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001.
Results
: The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/ 47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations.
Conclusion
: Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.
Key Words: Sex chromosome abnormalities , Karyotype , Klinefelter syndrome , Turner syndrome , Mixed gonadal dysgenesis


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