Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier

• Main Authors: Chih-Ping Chen (Author), Chen-Yu Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Yun-Yi Chen (Author), Chen-Chi Lee (Author), Chen-Wen Pan (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Objective: We present prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier. Case report: A 38-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a heteromorphic variant of chromosome 9 with a 9p12 amplification on G-band preparations, but it was negative on C-band preparations. Cytogenetic analysis of the parents revealed that the phenotypically normal father carried the same euchromatic 9p + polymorphism. Array comparative genomic hybridization analysis on the DNA extracted from the father's blood revealed no genomic imbalance. At 37 weeks of gestation, a healthy 2760-g female baby was delivered with no phenotypic abnormality. She was doing well at age one year during follow-up. Conclusion: Prenatal diagnosis of a 9p + variant can be a euchromatic chromosome variant of a familial 9p12 amplification without phenotypic consequences.

Item Description

1028-4559
10.1016/j.tjog.2021.07.021