Prenatal diagnosis of a fetus with cleft lip and palate by using chromosomal microarray analysis / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus with cleft lip and palate.@*METHODS@#Copy number variations (CNVs) in the fetus and his parents were detected with chromosomal microarray analysis (CMA).@*RESULTS@#As revealed by the CMA assay, the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1. Both CNVs were inherited from the parents. The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene, whilst the CNV in 9p21.1 was predicted to be benign.@*CONCLUSION@#Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus.