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.
Tamaki
K
K
Department of Pediatrics, Unitika Central Hospital, Kyoto, Japan.
Horie
K
K
Go
T
T
Okuno
T
T
Mikawa
H
H
Hua
Z Y
ZY
Abe
T
T
D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12; D002889:Chromosomes, Human, Pair 2; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*