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A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8

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Author(s)
Jae Hee LeeHeung Sik KimJung Sook Ha
Keimyung Author(s)
Ha, Jung SookKim, Heung Sik
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Journal of Genetic Medicine
Issued Date
2013
Volume
10
Issue
2
Abstract
Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with several skeletal anomalies. She exhibited distinct phenotypic features such as tall stature, deviation of the left middle finger, webbing of both thumbs and flexion deformities of the both third and fifth distal intermediate phalanges. A mild impulse-control disorder was observed, without mental retardation. Chromosomal and fluorescence in situ hybridization analysis demonstrated double trisomy mosaicism both on lymphocytes and buccal epithelial cells.
Keimyung Author(s)(Kor)
하정숙
김흥식
Publisher
School of Medicine
Citation
Jae Hee Lee et al. (2013). A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8. Journal of Genetic Medicine, 10(2), 117–119. doi: 10.5734/JGM.2013.10.2.117
Type
Article
ISSN
1226-1769
DOI
10.5734/JGM.2013.10.2.117
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/38325
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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