Trisomy 7p: association with several craniocerebral anomalies and spongy degeneration.

Partial trisomy 7p has been observed associated with particular anatomo-pathological findings. A newborn female with several congenital anomalies, whose chromosome constitution was: 46,XX,-14, + der (7;14) (7pter----7p11::14p11----14qter), is reported. The patient died at the age of 10 months, because of cardiac failure and autopsy was performed: the microscopic study showed spongy degeneration in the brain.