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http://dx.doi.org/10.5734/JGM.2013.10.2.120

Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases  

Kim, Bu Kyung (Department of Internal Medicine, Kosin University College of Medicine)
Sohn, Young Bae (Department of Medical Genetics, Ajou University School of Medicine)
Park, Sang-Jin (MG Med, Inc.)
Yim, Shin-Young (Department of Physical Medicine and Rehabilitation, Ajou University School of Medicine)
Chung, Yoon-Sok (Department of Medical Genetics, Ajou University School of Medicine)
Publication Information
Journal of Genetic Medicine / v.10, no.2, 2013 , pp. 120-123 More about this Journal
Abstract
This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with hypocalcemic seizure, an 18-year-old man with short stature, and a 24-year-old woman incidentally diagnosed as 22q11.2DS. The first two patients revealed short stature and low bone mineral density, and their deletion sites included the $TBX_1$. The third patient had normal stature and normal bone mineral density, and the deletion site did not include the $TBX_1$. The deletion of specific genes including the $TBX_1$ could be an important factor of skeletal development including height and bone mineral density of 22q11.2DS.
Keywords
22q11.2 deletion syndrome; Height; Bone;
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