De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms.
A boy with infantile spasms was found to have a balanced de novo translocation, 6q;14q. The karyotype was 46,XY,t(6;14)(q27;q13.3). He had mental retardation and microcephaly but no dysmorphic features. Whether or not there is a relationship between the translocation in our patient and his infantile spasms is unknown. If there is a connection, a gene or genes on chromosome 14 may be implicated in the seizure disorders that are common in patients with ring chromosome 14 syndrome or proximal partial trisomy 14 syndrome.
D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D008297:Male; D013036:Spasms, Infantile / Q000235:genetics*; D014178:Translocation, Genetic