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Terminal Deletion of Chromosome 2q Associated with Graves' Disease : A Case Report and Literature Review

Terminal deletion of chromosome 2q is a rare chromosomal disorder. The clinical phenotype is mild but is usually associated with distinct craniofacial phenotype and variable digital anomalies. We describe a 22-year-old obese woman with terminal deletion of 2q. A high-resolution blood chromosome study revealed a 46, XX, del(2)(q37.1) karyotype in a total of 20 cells. She had typical facial dysmorphisms including frontal bossing, long eyelashes, arched eyebrows, mid-facial hypoplasia, and low set, dysplastic ears. She was mildly mentally retarded, talkative, happy, and curious. This cheerful behavior was different from behavior anomaly previously reported in patients with this deletion. Her limb anomalies were milder as compared with the split hands and split foot of patients with deletion of 2q24-31. Excessive sweating and chronic diarrhea were noted since early infancy, and Graves' disease was diagnosed at the age of 4 years. To our knowledge, this is the first report of a terminal deletion of the long arm of chromosome 2 associated with Graves' disease. Since the genetic contribution of autoimmune thyroid disease are found to be associated with human leukocyte antigen (HLA) genes, thyrotropin gene (TSH), cytokine genes, and immune modulators such as cytotoxic T lymphocyte antigen-4 gene (CTLA4). CTLA4 is located on chromosome 2q33 and encodes a T cell surface molecule critical for controlling T-cell tolerance. The association between immune dysregulation and genes in the region of 2q37.1~qter such as the programmed cell death 1 (PTCD1) gene is worth further investigation.