An infant with trisomy 6q21 leads to 6qter

A female who died shortly after birth with multiple congenital anomalies corresponding to the clinical picture of partial 6q trisomy is described and the autopsy findings are presented. The patient had an unbalanced chromosome complement with a 6q21 leads to 6qter duplication. Her mother is a balanced 46,XX,t(6;10)(q21;q26) carrier.