Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15) |
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| Authors: | K Tamaki K Horie T Go T Okuno H Mikawa Z Y Hua T Abe |
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| Institution: | Department of Pediatrics, Unitika Central Hospital, Kyoto, Japan. |
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| Abstract: | A balanced reciprocal translocation, 46,XY, t(2;12), was detected in a male infant who had the characteristic features of Sotos syndrome. His father's karyotype was normal, but his mother and an older brother had the same chromosomal abnormality without a history or clinical features of Sotos syndrome. |
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