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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)
  • Received : 2013.12.05
  • Accepted : 2013.12.24
  • Published : 2013.12.31

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

References

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