Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report

This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).