Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15).

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.

Keywords

Male, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 2, Humans, Syndrome, Gigantism, Translocation, Genetic, Chromosome Banding, Pedigree

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