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Review Article
Endocrinology
Lifelong medical challenges and immunogenetics of Turner syndrome
Won Kyoung Cho
Clin Exp Pediatr. 2024;67(11):560-568.   Published online July 31, 2024
· This summary emphasizes the importance of the early diagnosis of Turner syndrome (TS) and presents a multidisciplinary approach to its prevention and management, high-lighting the need for customized care.
· Advancements in immunogenetic research may improve our understanding of TS and improve its outcomes.
· TS encompasses a wide array of medical challenges, including cardiovascular, endocrine, autoimmune, and mental health issues, as well as a heightened cancer risk.
Original Article
A Cytogenetic Study in Patients with Sex Chromosome Abnormalities
Hyun Ji Seo, Ji Hye Lee, Heung Kyo Lee, Seung Hee Jung, Kun Soo Lee
Clin Exp Pediatr. 2005;48(12):1317-1323.   Published online December 15, 2005
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...
Case Report
Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome
Ki Hea Cho, Jung Hwa Lee, Kee Hyoung Lee, Kwang Chul Lee, Ji Tae Choung, Chang Sung Son, Young Chang Tockgo
Clin Exp Pediatr. 2000;43(8):1111-1115.   Published online August 15, 2000
Kabuki make-up syndrome(KMS) is characterized by mental and developmental retardation and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows, resembling the actors in Japanese Kabuki. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. Although most karyotypes of KMS are shown to be normal, there have been some...