Summary
A 2.5-year-old boy with a ring chromosome 10 was described. Clinical features included developmental retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity. By using PHA stimulated peripheral blood lymphocytes, Epstein-Barr virus transformed lymphoblastoid cell line and cultured skin fibroblasts, his karyotype was identified to be mos45,XY,−10/46,XY/46,XY,r(10) (p15.3q26.3).
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Kishi, K., Ikfuchi, T., Yamamoto, K. et al. Report of a patient with a ring chromosome 10: mos45,XY,−10/46,XY/46,XY,r(10) (p15.3q26.3). Jap J Human Genet 30, 233–238 (1985). https://doi.org/10.1007/BF01876474
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DOI: https://doi.org/10.1007/BF01876474
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