Abstract
Abstract
Background
Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis. The presence of sSMC poses a challenge for genetic counselling.
Methods
We obtained the clinical information of 25 cases with sSMC. The fetal samples were subjected to multiple molecular and cytogenetic approaches including karyotype analysis, chromosomal microarray analysis, bacterial artificial chromosomes-on-beads assay, and fluorescence in situ hybridization.
Results
Seven sSMCs were found to be r(X), and five of the cases terminated the pregnancy. Three markers were idic(15), and one of the cases was normal at birth. Two markers were i(12p), and both cases terminated the pregnancy. Other markers were r(Y) (outcome: normal at birth), i(18p) (outcome: stillbirth), der(15) (outcome: terminated), del(9) (outcome: terminated), dup(13) (outcome: follow-up loss), and derived from chromosome 21 (outcome: stillbirth). Seven markers were of unknown origin because not all methods were applied to them.
Conclusion
Applying multiple molecular and cytogenetic approaches could identify the origin and genetic content of sSMC to assist the genetic counselling in prenatal diagnosis.
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Reference29 articles.
1. Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, et al. Marker chromosomes in Korean patients: incidence, identification and diagnostic approach. J Korean Med Sci. 2003;18(6):773–8.
2. Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med. 2007;19(5):719–31.
3. Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H. A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity. Genet Med. 2013;15(1):3–13.
4. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn. 2006;26(12):1142–50.
5. McGowan-Jordan J, Hastings RJ, Moore S, editors. ISCN 2020: an international system for human cytogenomic nomenclature. Basel: Karger Publishers; 2020.
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献