Diagnosis of a fetus with partial 17p trisomy using chromosomal microarray analysis / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To use single nucleotide polymorphism microarray (SNP array) to screen whole genome copy number variations (CNVs) in a fetus with multiple malformation.@*METHODS@#Amniotic fluid sample was subjected to routine G banding chromosomal analysis and CNVs detection, and its parents were tested in order to determine the origin of fetal chromosomal aberration.@*RESULTS@#SNP array has detected a large fragment repetition spanning approximately 16 Mb in the 17q24.2-q25.3 region in the fetus. The karyotype of amniotic fluid was 46,XY,der(21),t(17;21)(q23;p12). The karyotype of the mother was normal, while its father has a karyotype of 46,XY,t(17;21)(q23;p12).@*CONCLUSION@#The large repetition at 17q24.2-q25.3 probably underlies the multiple fetal malformation. Abnormal fetuses carrying apparently balanced chromosomal translocations may harbor CNVs outside the breakpoint regions involved in the rearrangements. SNP array has provided a useful supplement for the conventional G banding karyotyping analysis.