Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 262-265

  Dennis, Thomas R ^a   Raptoulis, Gina N ^b   Stalker, Heather J ^c   Boles, Debra ^d   Meck, Jeanne M ^e   Krasnewich, Donna M ^f   Schiffmann, Raphael ^g   Zori, Roberto T ^c  

^a Shodair Children's Hospital   (United States)

^b affiliation with Nova Southeastern College of Osteopathic Medicine   (United States)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^d Carilion Labs   (United States)

^e QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 19; CHROMOSOME ANALYSIS; CHROMOSOME MICRODISSECTION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RISK; HUMAN; LETTER; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 19; CYTOGENETIC ANALYSIS; FEMALE; GENETIC MARKERS; HUMANS; INFANT; MALE; MICRODISSECTION; MOSAICISM;

EID: 59849089377     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32512     Document Type: Letter

References (16)

1. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. 2001. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99:223-233.
2. Avansino JR, Dennis TR, Spallone P, Stock AD, Levin ML. 1999. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. Am J Med Genet 87:6-11.
3. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. 2008. Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 82:398-410.
4. Crolla JA. 1998. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15. II. Review of the literature. Am J Med Genet 75:367-381.
5. ISCN. 2005. An International System for Human Cytogenetic Nomenclature. In: Shaffer LG, Tommerup N, editors. Basel: S. Karger.
6. Kozma C, Blancato J, Meck J, Jiang Y. 1998. Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA. Am J Med Genet 77:19-22.
7. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H. 2006. Small supernumerary marker chromosomes-Progress towards a genotype-phenotype correlation. Cytogenet Genome Res 112:23-34.
8. Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch JR. 2006a. Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am J Med Genet Part A 140A:46-51.
9. Muller-Navia J, Nebel A, Schleiermacher E. 1995. Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. Hum Genet 96:661-667.
10. Rice GM, Qi Z, Selzer R, Richmond T, Thompson K, Pauli RM, Yu J. 2006. Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes. Am J Med Genet Part A 140A:1637-1643.
11. Shahwan A, Green AJ, Carey A, Stallings RL, O'Flaherty OC, King MD. 2004. Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19. Epilepsia 45:997-1000.
12. Stankiewicz P, Bocian E, Jakubow-Durska K, Obersztyn E, Lato E, Starke H, Mroczek K, Mazurczak T. 2000. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. J Med Genet 37:114-120.
13. Sybert VP, Bradley CM, Salk D. 1988. Mosaicism for ring 19: A case report. Clin Genet 34:382-385.
14. Vranekovic J, Brajenovic-Milic B, Kapovic M. 2007. Identification of a supernumerary marker chromsome dereived from chromosome 19p. Chr Res 15: Suppl. 1, p 29 (Abstract 1.14-P information from poster). (Excerpted from http://www.med.uni-jena.de/fish/sSMC/00START.htm database of sSMCs.)
15. Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
16. Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z. 2007. Proximal 19q trisomy: A new syndrome of morbid obesity and mental retardation. Horm Res 67:105-110.