De novo small supernumerary marker chromosomes detected on 143000 consecutive prenatal diagnoses: Chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

Prenatal Diagnosis

Volumn 34, Issue 5, 2014, Pages 460-468

  Malvestiti, Francesca ^a   De Toffol, Simona ^a   Grimi, Beatrice ^a   Chinetti, Sara ^a   Marcato, Livia ^a   Agrati, Cristina ^a   Di Meco, Anna Maria ^a   Frascoli, Giuditta ^a   Trotta, Anna ^a   Malvestiti, Barbara ^a   Ruggeri, Anna ^a   Dulcetti, Francesca ^a   Maggi, Federico ^a   Simoni, Giuseppe ^a   Grati, Francesca Romana ^a  

^a Cytogenetics and Molecular Biology   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENETIC MARKER;

ACROCENTRIC CHROMOSOME; ADULT; AMNIOCENTESIS; AMNION FLUID; ANXIETY; ARTICLE; CHORION VILLUS SAMPLING; CHROMOSOMAL PARAMETERS; CHROMOSOME CHARACTERIZATION; CHROMOSOME DISTRIBUTION; CHROMOSOME FREQUENCY; COMPARATIVE GENOMIC HYBRIDIZATION; CONFINED PLACENTAL MOSAICISM; CONTROLLED STUDY; CYTOGENETICS; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC COUNSELING; GENOME IMPRINTING; HEALTH SURVEY; HUMAN; HUMAN TISSUE; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MARKER CHROMOSOME; MATERNAL AGE; MOLECULAR GENETICS; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; RELIABILITY; SUPERNUMERARY CHROMOSOME; CHROMOSOME; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; GENETIC MARKER; PROCEDURES; REPRODUCIBILITY; STATISTICS AND NUMERICAL DATA;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FEMALE; GENETIC MARKERS; HUMANS; INCIDENCE; MALE; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS;

EID: 84898823220     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4330     Document Type: Article

References (26)

1. Shaffer LG, McGowan-Jordan J, Schmid M. An International System for Human Cytogenetic Nomenclature. Karger, 2013.
2. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004;107(1-2):55-67.
3. 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.
4. Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 2005;13(2):154-60.
5. Dalpra L, Giardino D, Finelli P, et al. Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. Genet Med 2005;7:620-25.
6. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis frequency, clinical significance and distribution of breakpoints. Am J Hum Genet 1991;49:18.
7. Graf MD, Christ L, Mascarello JT, et al. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J Med Genet 2006;43:660-4.
8. Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 1998;75(4):367-81.
9. Ballif BC, Hornor SA, Sulpizio SG, et al. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med 2007;9:150-62.
10. Yu S, Fiedler SD, Brawner SJ, et al. Characterizing small supernumerary marker chromosomes with combination of multiple techniques. Cytogenet Genome Res 2012;136(1):6-14.
11. Shaffer LG, Coppinger J, Alliman S, et al. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008;28:789-95.
12. Tsuchiya KD, Opheim KE, Hannibal MC, et al. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet 2008;21(1):7.
13. Vetro A, Manolakos E, Petersen MB, et al. Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet 2012;55(3):185-90.
14. Marle N, Martinet D, Aboura A, et al. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. Clin Genet 2014;85(3):233-44
15. Linee guida per la diagnosi citogenetica Consensus 2007 (www.sigu.net)
16. Specific Costitutional Cytogenetic Guidelines ECA July 2012 (www.e-c-a.eu)
17. Allen S, Mountford R, Butler A, et al. Practice guidelines for the testing for maternal cell contamination (MCC) in prenatal samples for molecular studies. Clinical Molecular Genetics Society 2008; Available at: http://www.cmgs.org/BPGs/Best_Practice_Guidelines.htm
18. Grati FR, Malvestiti F, Grimi B et al. QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44, 727 first-trimester prenatal diagnoses.Prenat Diagn 2013; 33(5):502-8.
19. Liehr T. 201X. Small supernumerary marker chromosomes. Available at: http://www.fish.uniklinikum-jena.de/sSMC.html.
20. Shaffer LG, Dabell MP, Fisher AJ, et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012;32(10):976-85.
21. Starke H, Nietzel A, Weise A, et al. Small supernumerary marker chromosomes (sSMC): genotype-phenotype correlation and classification. Hum Genet 2003;114:51-67.
22. Phillips OP, Avirachan T, Tharapel T et al. Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol 1996;174(3):820-55
23. Villa O, del Campo M, Salido M, et al. Clinical report - small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. Am J Med Genet Part A 2007;143A:1108-13.
24. Liehr T, Ewers E, Kosyakova N, et al. Handling small supernumerary marker chromosomes in prenatal diagnostics. Expert Rev Mol Diagn 2009;9:317-24.
25. Van Opstal D, Boter M, Noomen P et al. Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis. Mol Cytogenet 2011;4:2.
26. Liehr T, Ewers E, Hamid AB, et al. Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem 2011;59(9):842-8.