chromosomal translocation t12q24.1:11q21

Pathology

• defects in THRAP2 are associated with transposition of the great arteries - dextro-looped translocation t(12;17)(q24.1;q21) identified in one patient

More general terms

• chromosomal translocation

Additional terms

• thyroid hormone receptor-associated protein 2 (thyroid hormone receptor-associated protein complex 240 kD component-like, THRAP2, KIAA1025, PROSIT240, TRAP240L)
• transposition of the great vessels