Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.

Objective: We present prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis (CMA) in a fetus with multiple congenital anomalies on fetal ultrasound.

Case Report: A 41-year-old, gravida 2, para 1, woman underwent amniocentesis at 25 weeks of gestation because of intrauterine growth restriction, endocardial cushion defect, clenched hands, arthrogryposis, rocker bottom feet and craniosynostosis on fetal ultrasound. Amniocentesis revealed a karyotype of 46,XX,add(11)(q23.3). Array comparative genomic hybridization (aCGH) analysis of the DNA extracted from the uncultured amniocytes revealed the result of arr 8q24.13q24.3 × 3, 11q23.3q25 × 1. Analysis of FGFR2 revealed no mutation. The karyotype was 46,XX,der(11)t(8;11)(q24.13;q23.3). The parental karyotypes were normal. The pregnancy was subsequently terminated, and a dead malformed fetus was delivered with craniofacial dysmorphism of low-set malformed ears, depressed nasal bridge, hypertelorism, small mouth, clenched hands and rocker bottom feet. Cytogenetic analysis of the placenta revealed a karyotype of 46,XX,der(11)t(8;11)(q24.13;q23.3). aCGH analysis of the DNA extracted from the umbilical cord showed the result of arr 8q24.13q24.3 (126,302,369-146,280,020) × 3.0, arr 11q23.3q25 (120,469,928-134,868,407) × 1.0 [GRCh37] with a 19.978-Mb duplication of 8q24.13-q24.3 and a 14.398-Mb deletion of 11q23.3-q25 encompassing the genes of BSX, ETS1, FLI1 and ARHGAP32.

Conclusion: CMA is useful for detection of de novo chromosomal rearrangement in the fetus with multiple congenital anomalies on fetal ultrasound.