Objective To explore the prenatal diagnosis and genetic counseling for a case of de novo MECP2 duplication syndrome.Methods Routine G-banding karyotyping and CNV-seq were used to detect fetal amniotic fluid samples,and systematic ultrasound examination was performed on the fetus.CNV-seq of peripheral blood of the couple was performed to determine the source of fetal genomic variation,and the relevant literature was reviewed.Results Systematic ultrasound examination suggested right renal pelvis separation in the fetus.Fetal chromosome karyotype analysis showed no abnormality.The CNV-Seq results of the fetus were seq[hg19]dup(X)(q28q28)chrX:g.153 140 000_153 400 000dup,revealing a 260 Kb duplication at Xq28.CNV-seq of the couple's peripheral blood showed no abnormalities,suggesting that the fetus was a de novo MECP2 duplication syndrome.Conclusion MECP2 duplication syndrome lacks specific ultrasound manifestations in fetus.CNV-seq can effectively detect MECP2 duplication syndrome,which provides a basis for prenatal diagnosis and genetic counseling.
维普
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