First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Cytogenetic and Genome Research

Volumn 108, Issue 4, 2005, Pages 278-282

  Trimborn, M ^a   Grueters, A ^a   Neitzel, H ^a   Tonnies H ^a,b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 10; CHROMOSOME 10Q; CHROMOSOME PAINTING; CYTOGENETICS; DISOMY; EUCHROMATIN; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MARKER CHROMOSOME; MICRODISSECTION; MOUTH MUCOSA; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; SCHOOL CHILD; SHORT STATURE; SUPERNUMERARY CHROMOSOME;

ADOLESCENT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHROMOSOMES, HUMAN, PAIR 10; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; EUCHROMATIN; FEMALE; GROWTH DISORDERS; HUMANS; MUSCLE HYPOTONIA; PHENOTYPE; RING CHROMOSOMES;

EID: 11444263016     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000081524     Document Type: Article

References (21)

1. Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ: Further delineation of the partial proximal trisomy 10q syndrome. J Med Genet 32:968-971 (1995).
2. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E: Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99:223-233 (2001).
3. Berend SA, Shaffer LG, Bejjani BA: Pure trisomy 10p involving an isochromosome 10p. Clin Genet 55:367-371 (1999).
4. Blennow E, Tillberg E: Small extra ring chromosome derived from chromosome 10p: Clinical report and characterisation by FISH. J Med Genet 33:399-402 (1996).
5. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M: Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14:1019-1028 (1994).
6. Buckton KE, Spowart G, Newton MS, Evans HJ: Forty four probands with an additional "marker" chromosome. Hum Genet 69:353-370 (1985).
7. Chen Z, Meloni-Ehrig A, Palumbos JC, Guan XY, Carroll KL, Dent KM, Carey JC: Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics. Am J Med Genet 102:379-382 (2001).
8. Clement SJ, Leppig KA, Jarvik GP, Kapur RP, Norwood TH: Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. Am J Med Genet 65:197-204 (1996).
9. Crolla JA, Long F, Rivera H, Dennis NR: FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. Am J Med Genet 75:355-366 (1998).
10. Friedrich U, Houman M, Hansen BH, Kaltoft K: Microdissection and reverse painting in a melanoma cell line: a detailed description of structurally abnormal chromosomes. Cancer Genet Cytogenet 125:5-9 (2001).
11. Fryns JP, Kleczkowska A, Igodt-Ameye L, Van den Berghe H: Proximal duplication of the long arm of chromosome 10 (10q11.2 → 10q22): a distinct clinical entity. Clin Genet 32:61-65 (1987).
12. Levy B, Papenhausen P, Tepperberg J, Dunn T, Fallet S, Magid M, Kardon N, Hirschhorn K, Warburton P: Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome. Cytogenet Cell Genet 91:165-170 (2000).
13. Nucaro A, Faedda A, Cao A, Boccone L: Partial proximal trisomy 10q syndrome: a new case. Genet Couns 13:411-416 (2002).
14. Schinzel A: Catalogue of Unbalanced Chromosome Aberrations in Man, ed 2. (De Gruyter, Berlin, New York 2001).
15. Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A: Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenat Diagn 22:418-421 (2002).
16. Snyder FF, Lin CC, Rudd NL, Shearer JE, Heikkila EM, Hoo JJ: A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet 67:187-189 (1984).
17. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114:51-67 (2003).
18. Stengel-Rutkowski S, Murken JD, Frankenberger R, Riechert M, Spiess H, Rodewald A, Stene J: New chromosomal dysmorphic syndromes. 2. Trisomy 10p. Eur J Pediatr 126:109-125 (1977).
19. Tönnies H, Neumann LM, Grüneberg B, Neitzel H: Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. Am J Med Genet 121A:163-167 (2003a).
20. Tönnies H, Hennies HC, Spohr HL, Neitzel H: Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. Cytogenet Genome Res 103:28-33 (2003b).
21. Yunis E, Torres de Caballero O: Duplication deficiency as the result of meiotic segregation of a maternal inv (10). Hum Genet 57:71-74 (1981).