Prenatal diagnosis of a fetus with trisomies of 11q23.3q25 and 22q11.1q11.21 / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality.@*METHODS@#The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS).@*RESULTS@#Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father.@*CONCLUSION@#Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.