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Report of a patient with a ring chromosome 10 mosaic 45 xy minus 10 46 xy 46 xy ring 10 p15.3q26.3



Report of a patient with a ring chromosome 10 mosaic 45 xy minus 10 46 xy 46 xy ring 10 p15.3q26.3



Japanese Journal of Human Genetics 30(3): 233-238



A 2.5-year-old boy with a ring chromosome 10 was described. Clinical features included development 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 lymhoblastoid cell line and cultured skin fibroblasts, his karyotype was identified to be most 45,Xy, -10/46,Xy/46,XY,r(10) (p15.3q26.3).

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Accession: 006314427

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