Research Paper Volume 13, Issue 2 pp 2135—2148
Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis
- 1 Department of Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, Fujian, P.R. China
- 2 Reproductive Medicine Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, Fujian, P.R. China
Received: June 19, 2020 Accepted: October 3, 2020 Published: December 9, 2020https://doi.org/10.18632/aging.202220
How to Cite
Copyright: © 2020 Xue et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Small supernumerary marker chromosomes cannot be accurately identified by G-banding, and the related phenotypes vary greatly. It is essential to specify the origin, size, and gene content of marker chromosomes using molecular cytogenetic techniques. Herein, three fetuses with de novo marker chromosomes were initially identified by G-banding. Single nucleotide polymorphism array and fluorescence in situ hybridization were performed to characterize the origins of the marker chromosomes. The karyotypes of the three fetuses were 47,XY,+mar, 46,X,+mar/45,X, and 45,X/46,X,+mar. In case 1, the karyotype was confirmed as 47,XY,+ idic(22)(q11.2). Therefore, the sSMC originated from chromosome 22 and was associated with cat eye syndrome. In case 2, the marker chromosome derived from ring chromosome X, and the karyotype was interpreted as 45,X/46,X,+r(X)(p11.1q21.31). Meanwhile, the karyotype of case 3 was defined as 45,X/46,X,idic(Y)(q11.2) and the marker chromosome originated from chromosome Y. Case 1 continued the pregnancy, whereas the other two pregnancies underwent elective termination. The detailed characterization of marker chromosomes can facilitate informed decision making, prevent uncertainty, and provide proper prognostic assessments. Our findings emphasize the importance for combining cytogenetic and molecular genetic techniques in marker chromosome characterization.