chromosomal translocation t(3;10)(p24;q23)

Introduction

• translocation t(3;10)(p24;q23) located 215 kb 3' to the EOMES gene but leading to loss of its expression was identified in a large consanguineous family
  • homozygous silencing produces microcephaly associated with corpus callosum agenesis, bilateral polymicrogyria, ventricular dilatation & a small cerebellum

More general terms

• chromosomal translocation