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A Case of Short Arm Deletion of Chromosome 14.

Journal of the Korean Pediatric Society 1981;24(2):164-168.
Published online February 15, 1981.
A Case of Short Arm Deletion of Chromosome 14.
Ra Lee1, Jin Choi1, Woo Gill Lee1, Chong Moo Park1, Yong Kyun Paik2
1Departments of Pediatrics, Hanyang University College of Medicine, Seoul, Korea
2Departments of Genetics, Hanyang University College of Medicine, Seoul, Korea
第14番 染色體 短腕 缺失 症候群 1例
이라1, 최진1, 이우길1, 박종무1, 백용균2
1한양대학교 의과대학 소아과학교실
2한양대학교 의과대학 유전학교실
Abstract
We have experienced a case of short arm deletion of chromosome 14 (46, XY, del (14p)) in a 3y4 years old boy who had chief problems of mental retardation and microcephaly. This case was confirmed by chromosome analysis with various banding method. Dermatoglyphic analysis of the patient showed increased total ride counts die presence of whorl patterns and simian creases and flexion of 5th finger on both hands. Electroencephalography of the patient showed marked cerebral dysfunction and skull film revealed plagiocephaly. We reported this case with a brief review of the literature.
Key Words: Chromosome 14, deletion, mental retardation, short arm.


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