Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

• We present de novo del(18)(p11.21) in a fetus.
• Phenotype includes holoprosencephaly and premaxillary agenesis.
• We discuss the functions of genes within the deleted region.

We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06 Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis. QF-PCR analysis showed that distal 18p deletion was from maternal origin. Metaphase FISH analysis confirmed haploinsufficiency of TGIF. We discuss the functions of the genes that are deleted within this region. The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities.