Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).
We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291-293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5.
Imaizumi
Kiyoshi
K
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. kuroken@ma3.justnet.ne.jp
Kimura
Junko
J
Matsuo
Mari
M
Kurosawa
Kenji
K
Masuno
Mitsuo
M
Niikawa
Norio
N
Kuroki
Yoshikazu
Y
D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome; D014178:Translocation, Genetic