Author:

Keywords:

Abortion, Induced, Brain, Chromosome Deletion, Face, Female, Holoprosencephaly, Humans, Infant, Newborn, Karyotyping, X Chromosome, 2203 Philosophy, Genetics & Heredity, 5001 Applied ethics

Abstract:

A 20 weeks gestation female fetus with a lobar holoprosencephaly and Xq22 deletion is described. The phenotype correlation of the cerebral defect with the facial features is positive. On the contrary phenotypic-karyotypic correlation is non obvious.