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

Pathologica. 1990 Sep-Oct;82(1081):543-8.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Brain / abnormalities*
  • Brain / pathology
  • Brain Diseases / genetics
  • Brain Diseases / pathology*
  • Chromosomes, Human, Pair 7*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Phenotype
  • Trisomy*