Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis

ObjectiveWe present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for ring chromosome 13 r(13)], monosomy 13 and isodicentric ring chromosome 13 idic r(13)] by amniocentesis.Case reportA 24-year-old woman underwent amniocentesis at 23 weeks of gestation because of intrauterine growth restriction (IUGR) in the fetus. Amniocentesis revealed a karyotype of 46,XY,r(13)23]/45,XY,-1310]/46,XY,idic r(13)2]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) on cultured amniocytes revealed the result of arr 13q11q31.3 (19,436,286–92,284,309) × 1.85, arr 13q31.3q34 (92,288,514–115,107,733) × 1 GRCh37 (hg19)], indicating a 22.82-Mb 13q31.3-q34 deletion and a 15–20% mosaicism for 13q11-q31.3 deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. The placental tissues had a karyotype of 46,XY,r(13)18]/46,XY,-13,+mar14]/45,XY,-138]. Polymorphic DNA marker analysis confirmed a maternal origin of the 13q deletion.ConclusionFetus with mosaic r(13), monosomy 13 and idic r(13) may present IUGR on prenatal ultrasound, and fetoplacental cytogenetic discrepancy may exist under such a circumstance.