[A case of 15p tetrasomy associated with infantile spasms].
A seven-year-old boy with a 15p tetrasomy: [47, XY, + inv dup (15) (pter-->q13: :q13-->pter)] was reported. The clinical manifestation were as follows; infantile spasms, delayed development and slightly brownish coloured skin. But there were no other abnormal findings in neurological or physical examinations. This was the first case with 15p tetrasomy and infantile spasms.
Kobayashi
A
A
Department of Pediatrics, Shimane Medical University.
Ito
M
M
Okada
M
M
Yoshioka
K
K
D002648:Child; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013036:Spasms, Infantile / Q000235:genetics*