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
Journal of Genetic Medicine
;
: 65-68, 2008.
Article
Dans Coréen
| WPRIM
| ID: wpr-62798
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(813)(p23.3;q32.1)dn.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Analyse cytogénétique
/
Cytogénétique
/
Caryotype
/
Déficience intellectuelle
Limites du sujet:
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Journal of Genetic Medicine
Année:
2008
Type:
Article
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