{Reference Type}: Journal Article
{Title}: Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
{Author}: Chen CP;Tsai CH;Chern SR;Wu PS;Su JW;Lee CC;Chen YT;Chen WL;Chen LF;Wang W;
{Journal}: Gene
{Volume}: 529
{Issue}: 1
{Year}: Oct 2013 15
{Factor}: 3.913
{DOI}: 10.1016/j.gene.2013.07.050
{Abstract}: We present prenatal diagnosis and molecular cytogenetic characterization of de novo mosaic r(13). A 32-year-old woman underwent amniocentesis at 18 weeks of gestation because of maternal anxiety. Amniocentesis revealed a karyotype of 46,XY,r(13)[33]/45,XY,-13[19]. aCGH on uncultured amniocytes at repeated amniocentesis detected a 4.22-Mb deletion at 13q34. Interphase FISH on 100 uncultured amniocytes showed the ratio of r(13):-13:idic r(13) as 85%:13%:2%. The cord blood had a karyotype of 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]. The placenta had a karyotype of 46,XY,mar(13)[31]/45,XY,-13[3]. Metaphase FISH confirmed that the marker chromosomes in placenta were derived from chromosome 13. aCGH on cultured placental cells detected a 77.81-Mb deletion at 13q13.3-q34. The fetus postnatally manifested facial dysmorphism. Prenatal diagnosis of r(13) should alert mosaicism for deletion/duplication of r(13) and distal 13q deletion. Fetoplacental chromosomal discrepancy of r(13) may exist in case of mosaic r(13) detected by amniocentesis.