Prenatal diagnosis of a Pallister-Killian syndrome case through karyotype analysis and copy number variation sequencing technique
Objective To identify the cause and provide genetic counseling,making a genetic diagnosis of a fetus with multiple abnormalities indicated by prenatal ultrasonography.Methods Amniotic fluid cells were harvested from preg-nant individuals,and fetal genetics were investigated via conventional G-band karyotype analysis and copy number variation sequencing(CNV-seq)technology.Results Through cell chromosome analysis,the fetal karyotype was preliminarily identi-fied as 47,XN,+mar[49]/46,XN[11].The CNV-seq results indicated that there were 37.8 Mb replicates in the fetal 12p13.33q11 region with a copy number of 3.5.Combined with the molecular results,the fetal karyotype result was finally determined to be 47,XN,+idic(12)(q11)[49]/46,XN[11].Conclusion The fetus carrying i(12p)chimeric tetrameric bodies,combined with karyotype and molecular results,can be diagnosed as Pallister-Killian syndrome,which may lead to severe clinical phenotype.
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