Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype

Key Points

• An unbalanced translocation caused a fetus to exhibit a Jacobsen syndrome phenotype, leading to critical prenatal insights.
• The case illustrates the significance of prenatal diagnosis in detecting genetic abnormalities early on.
• Genetic counseling was recommended for the parents to prepare for future pregnancies and manage risks.
• This case emphasizes the importance of understanding inherited translocations for effective prenatal care.