Journal of Genetic Medicine  2008;5(1):65-68

Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation.

Soomin LEE 1 ; Dongsuk LEE ; Hyunah JEONG ; Kichul KIM ; Doyeong HWANG

Affiliations

+expand

Keywords

Unbalanced translocation; Molecular cytogenetics; Subtelomeric FISH; Array-CGH

Country

Republic of Korea

Language

Korean

Abstract

Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.