Analysis of Small Supernumerary Marker Chromosomes Repeated in Two Fragments of 15q in A Fetal Amniotic Fluid Case

doi:10.12280/gjfckx.20240047

Abstract

Abstract:

By using the conventional G-banding technique to analyze the chromosome karyotype of one fetal amniotic fluid cell and peripheral blood of the fetal's parents, and furtherly the clinical value of chromosome copy number variation (CNV) technique was used to identify the source of fetal small supernumerary marker chromosome (sSMC). The G-banding karyotype of fetal amniotic fluid was 47,XY,+mar; Fetal amniotic fluid CNV-seq showed dup(15)(q11.2q13.2) region repeats and dup(15)(q13.2q13.3) region repeats with fragment sizes of 7.64 Mb and 1.58 Mb respectively, pathogenicity. Chromosome aneuploidy was not detected from the fetal's father, the mother had a deletion of a 0.28 Mb region of chromosome 3 at q13.13, the clinical significance was unclear. The source of sSMC could be identified by CNV technique which could be used as a supplement to traditional karyotype analysis and provide a reliable basis for clinical prenatal diagnosis and genetic counseling.

Key words: Small supernumerary marker chromosome, Chromosome aberrations, DNA copy number variations, Genetic markers, Prenatal diagnosis

TONG Fei, HUANG Wei-tong, LIU Kai-min, ZHOU Shuo-an, LU Xiu-hua. Analysis of Small Supernumerary Marker Chromosomes Repeated in Two Fragments of 15q in A Fetal Amniotic Fluid Case[J]. Journal of International Obstetrics and Gynecology, 2024, 51(4): 473-476.

Figures/Tables 5

References 18

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