Two Cases of Chromosome Inverted Duplication with Terminal Deletion Syndrome
LI Yi
WEI Xin
LIU Yi
LIU Ji-hong
MU Kai
Abstract：Chromosomal abnormalities are a major cause of the structural anomalies detected during early fetal ultrasound screening.We report two cases of early fetal nuchal translucency(NT)abnormalities linked to chromosomal copy number variations(CNVs)and their origins.G-banding karyotype analysis was conducted on amniotic fluid cells of the fetuses and the peripheral blood of their parents,supplemented by single nucleotide polymorphism array(SNP-array)analysis of fetal amniotic fluid cells.For case 1,karyotype analysis revealed 46,Xn,der(4)del(4)(q35.2)dup(4)(q35.2q26),and the SNP-array results identified terminal deletion with partial inversion duplication on chromosome 4q,confirming 4q inversion duplication with terminal deletion syndrome.For case 2,the karyotype was 46,Xn,der(X)del(X)(p22.23)dup(X)(p22.31p11.1),and SNP-array analysis detected a 49.414 Mb duplication in the Xp22.31p11.1 region,consistent with Xp inversion duplication with terminal deletion syndrome.Both cases were de novo mutations.The integration of karyotype and SNP-array analyses successfully determined the genetic causes of NT abnormalities in these cases,providing a solid foundation for subsequent reproductive guidance.
Keywords：Prenatal diagnosisInversion duplication syndromeSingle nucleotide polymorphism microarrayChromosomesKaryotyping
Publication Date：2025-05-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 207-210 )