Maternal uniparental heterodisomy for chromosome 16: case report

A patient with uniparental heterodisomy for chromosome 16 presented initially at prenatal diagnosis with a karyotype of 47, XX + 16 on chorionic villus sampling at 11 weeks gestation. The pregnancy was proceeding normally and follow up amniocentesis showed a normal female karyotype. At birth, the child was healthy, but had intrauterine growth retardation. She had unilateral talipes equinovarus and unilateral renal agenesis. Her growth had improved to within the normal range by age three years. On examination, she has epicanthic folds, a flat midface and almond shaped eyes. While these characteristics are not frankly abnormal, they are significantly different from other relatives in her family.