chromosomal translocation t(12;22)(q24.1;q13.3)

Pathology

• chromosomal translocation t(12;22)(q24.1;q13.3) involving SHANK3 & DIP13B associated with chromosome 22q13.3 deletion syndrome

More general terms

• chromosomal translocation

Additional terms

• DCC-interacting protein 13 beta; Dip13 beta; adapter protein containing PH domain; PTB domain & leucine zipper motif 2 (DIP13B, APPL2)
• SHANK3 gene