Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis.

Abstract	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[32]/45,X[68], and 45,X[62]/46,X,+mar[9]. 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[68]/46,X,+r(X)(p11.1q21.31)[32]. Meanwhile, the karyotype of case 3 was defined as 45,X[62]/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.
Authors	Huili Xue, Xuemei Chen, Min Lin, Na Lin, Hailong Huang, Aili Yu, Liangpu Xu
Journal	Aging (Aging (Albany NY)) Vol. 13 Issue 2 Pg. 2135-2148 (12 09 2020) ISSN: 1945-4589 [Electronic] United States
PMID	33318309 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Genetic Markers
Topics	Aneuploidy Chromosome Disorders (diagnosis, genetics) Chromosomes, Human, Pair 22 (genetics) Eye Abnormalities (diagnosis, genetics) Female Genetic Markers Humans In Situ Hybridization, Fluorescence Karyotyping Microarray Analysis Phenotype Pregnancy Prenatal Diagnosis

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