J Genet Med.  2013 Dec;10(2):120-123. 10.5734/JGM.2013.10.2.120.

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

Affiliations
  • 1Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea.
  • 2Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea. yschung@ajou.ac.kr
  • 3MG Med, Inc. Seoul, Korea.
  • 4Department of Physical Medicine and Rehabilitation, Ajou University School of Medicine, Suwon, Korea.
  • 5Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.

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 TBX1. The third patient had normal stature and normal bone mineral density, and the deletion site did not include the TBX1. The deletion of specific genes including the TBX1 could be an important factor of skeletal development including height and bone mineral density of 22q11.2DS.

Keyword

22q11.2 deletion syndrome; Height; Bone
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