LAUSR

Abstract Rationale: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings. Prenatal diagnosis and fetal ultrasonographic findings of JBS are rare. Patient concerns: A 38-year-old, gravida 3, para 1, pregnant woman underwent clinical ultrasound examination at 22 weeks of gestation. Diagnoses: Ultrasonographic findings indicated an interventricular septal defect, the presence of septal blood flow, dilation of the left renal pelvis, and a single umbilical artery. Amniocentesis was performed to evaluate possible genetic causes of this diagnosis by cytogenetic and single nucleotide polymorphism (SNP) array analysis. Interventions: After genetic counseling and informed consent, the couple elected to terminate the pregnancy. Outcomes: Karyotype analysis showed that the fetal karyotype was 46,XX,del(11)(q23). The SNP array revealed a 6.118 Mb duplication of 11q23.2q23.3 and a 15.03 Mb deletion of 11q23.3q25. Lessons: Ultrasonographic findings of fetal JBS, including an interventricular septal defect, dilation of the left renal pelvis, and a single umbilical artery, may be associated with a 15.03 Mb deletion of 11q23.3q25. Further cases correlating phenotype and genotype are required to predict the postnatal phenotype.