Journal Mobile Options
Table of Contents
Vol. 136, No. 1, 2012
Issue release date: January 2012
Section title: Original Article
Cytogenet Genome Res 2012;136:6–14
(DOI:10.1159/000334271)

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Yu S. · Fiedler S.D. · Brawner S.J. · Joyce J.M. · Zhou X.G. · Liu H.Y.
aDepartment of Pathology, Children’s Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Mo., USA; bDepartment of Cardiac Surgery, The First Affiliated Hospital of Harbin Medical University, Harbin, China

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restriction apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 8/1/2011
Published online: 11/23/2011

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR). Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs


Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 8/1/2011
Published online: 11/23/2011

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

  1. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH: Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 82:398–410 (2008).
  2. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, et al: Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 140:2757–2767 (2006).
  3. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, et al: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39:1071–1073 (2007).
  4. Belien V, Gerard-Blanluet M, Serero S, Le Du N, Baumann C, et al: Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. Am J Med Genet A 146A:1871–1874 (2008).
  5. Dennis TR, Raptoulis GN, Stalker HJ, Boles D, Meck JM, et al: Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19. Am J Med Genet A 149A:262–265 (2009).
  6. Ewers E, Yoda K, Hamid AB, Weise A, Manvelyan M, Liehr T: Centromere activity in dicentric small supernumerary marker chromosomes. Chromosome Res 18:555–562 (2010).
  7. Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, et al: De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: clinical description, array CGH analysis, and review of the literature. Am J Med Genet A 152A:1925–1932 (2010).
  8. Kogan JM, Miller E, Ware SM: High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet A 149A:887–893 (2009).
  9. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, et al: Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17:628–638 (2008).
  10. Liehr T, Weise A: Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19:719–731 (2007).
  11. Liehr T, Claussen U, Starke H: Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55–67 (2004).
  12. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, et al: Small supernumerary marker chromosomes–progress towards a genotype-phenotype correlation. Cytogenet Genome Res 112:23–34 (2006).
  13. Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, et al: Neocentric small supernumerary marker chromosomes (sSMC)–three more cases and review of the literature. Cytogenet Genome Res 118:31–37 (2007).
  14. Liehr T, Karamysheva T, Merkas M, Brecevic L, Hamid AB, et al: Somatic mosaicism in cases with small supernumerary marker chromosomes. Curr Genomics 11:432–439 (2011a).

    External Resources

  15. Liehr T, Ewers E, Hamid AB, Kosyakova N, Voigt M, et al: Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem 59:842–848 (2011b).
  16. Mascarenhas A, Matoso E, Saraiva J, Tonnies H, Gerlach A, et al: First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q. Cytogenet Genome Res 121:293–297 (2008).
  17. Masukawa H, Ozaki T, Nogimori T: Cat eye syndrome with hypogonadotropic hypogonadism. Intern Med 37:853–856 (1998).
  18. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749–764 (2010).
  19. Moskovitz M, Brener D, Annick RR: Dental management of a child with trisomy 9 mosaicism: a case report. Pediatr Dent 28:265–268 (2006).
  20. Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC: A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report. Genet Couns 21:99–108 (2010).
  21. Murthy SK, Malhotra AK, Jacob PS, Naveed S, Al-Rowaished EE, et al: Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report. Mol Cytogenet 1:19 (2008).
  22. Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, et al: Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet 48:167–175 (2007).
  23. Sanchez Zahonero J, Andres Celma M, Lopez Garcia MJ: Mosaic trisomy 9: report of a new case with a long-term survival. An Pediatr (Barc) 68:273–276 (2008).
  24. Sung PL, Chang SP, Wen KC, Chang CM, Yang MJ, et al: Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype. Am J Med Genet A 149A:2768–2774 (2009).
  25. Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, et al: Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat 31:840–850 (2010).
  26. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, et al: Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Mol Cytogenet 1:6 (2008).
  27. Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, et al: Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet 1:7 (2008).
  28. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, et al: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358:667–675 (2008).
  29. Wooldridge J, Zunich J: Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am J Med Genet 56:258–264 (1995).
  30. Yu S, Barbouth D, Benke PJ, Warburton PE, Fan YS: Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH. Cytogenet Genome Res 116:141–145 (2007).
  31. Yu S, Bittel DC, Kibiryeva N, Zwick DL, Cooley LD: Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am J Clin Pathol 132:349–360 (2009a).
  32. Yu S, Kielt M, Stegner AL, Kibiryeva N, Bittel DC, Cooley LD: Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization. Genet Test Mol Biomarkers 13:751–760 (2009b).
  33. Zackai EH, Emanuel BS: Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7:507–521 (1980).
  34. Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H, et al: Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 122:345–353 (2007).