Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome

• Main Authors: Chih-Ping Chen (Author), Tsang-Ming Ko (Author), Jian-Pei Huang (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Wen-Lin Chen (Author), Meng-Shan Lee (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 1028-4559; 10.1016/j.tjog.2020.07.027
• Keywords: 15q11.2 duplication; Euchromatic variant; Prenatal diagnosis; Gynecology and obstetrics; RG1-991
• Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 5, Pp 770-772 (2020)

Objective: We present prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome. Case report: A 32-year-old woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety. Amniocentesis revealed a karyotype of 46,XX,dup(15)(q11.2q11.2). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1-22, X) × 2 with no genomic imbalance. Cytogenetic analysis of the parental bloods showed that the mother had a karyotype of 46,XX,dup(15)(q11.2q11.2), and the father had a karyotype of 46,XY. Prenatal ultrasound findings were unremarkable. A healthy 2948 g female baby was delivered at 39 weeks of gestation without any phenotypic abnormality. Cytogenetic analysis of the cord blood revealed a karyotype of 46,XX,dup(15)(q11.2q11.2). Conclusion: Prenatal diagnosis of dup(15)(q11.2q11.2) should include a differential diagnosis of a 15q11.2 (BP1-BP2) microduplication encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1, and aCGH analysis is useful for the differential diagnosis under such a circumstance.