Prenatal diagnosis of partial trisomy 3q in a fetus / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.@*METHODS@#Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.@*RESULTS@#The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal.@*CONCLUSION@#3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.