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

• Main Authors: Chih-Ping Chen (Author), Jian-Pei Huang (Author), Fang-Tzu Wu (Author), Peih-Shan Wu (Author), Yen-Ting Pan (Author), Chen-Chi Lee (Author), Wen-Lin Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 am...