Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with lissencephaly.@*METHODS@#Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis.@*RESULTS@#The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17: 1-2 588 909).@*CONCLUSION@#The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.