Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

American Journal of Medical Genetics, Part A

Volumn 143, Issue 22, 2007, Pages 2727-2732

  Rodriguez, L ^a,e   Liehr, T ^b   Mrasek, K ^b   Mansula E ^a   Martinez Fernandez M L ^a   Garcia, A ^c   Martinez Frias, M L ^a,d  

^a MINISTERIO DE SANIDAD Y CONSUMO   (Spain)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^c Servicio de Pediatria   (Spain)

^d UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

18p trisomy; Euchromatic variants (EV); Small supernumerary marker chromosome (sSMC); Uniparental disomy (UPD)

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME G BAND; CHROMOSOME MARKER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; NEWBORN; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TRISOMY 18; TRISOMY 18P; UNIPARENTAL DISOMY;

EID: 35948945767     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32003     Document Type: Article

References (34)

1. Barber J. 2005. Directly transmitted unbalanced chromosome abnormalities and dichromatic variants. J Med Genet 42:609-629.
2. Bermejo E, Cuevas L, Mendioroz J, Martínez-Frías ML. 2005. Anomalías congénitas en España: Vigilancia epidemiológica en el último cuarto de siglo (1980-2004). Boletín del ECEMC. Revista de Dismorfología y Epidemiologí a, Serie V, No. 4: 62-86.
3. Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. 1993. Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet 53:1074-1078.
4. Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O. 2003. Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: A genomic polymorphism? J Med Genet 40:e94.
5. 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.
6. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. 2006. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet Part A 140A:434-441.
7. Gardner RJM, Rudd NL, Stevens LJ, Worton RG. 1978. Autosomal imbalance with a near - Normal phenotype: The small effect of trisomy for the short arm of chromosome 18. In: Submmitt RL, Bergsma D, editors. Sez differentiation and chromosomal abnormalities. New York: Alan R. Liss., Inc., for the National Foundation-March of Dimes. BC: OAS XIV. p 359-363.
8. Habedank M, Trost-Brinkhues GJ. Monosomy 18p and pure trisomy 18p in a family with translocation (7;18). J Med Genet 5:377-399.
9. Hengstschlager M, Prusa A, Repa C, Deutinger J, Pollak A, Bernaschek G. 2005. Subtelomeric rearrangements as neutral genomic polymorphisms. Am J Med Genet Part A 133A:48-52.
10. Hernandez A, Corona-Rivera E, Plascencia L, Nazara Z, Ibarra B, Cantu JM. 1979. De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances. Ann Genet 22:165-167.
11. Jacobsen P, Mikkelsen M. 1968. Chromosome 18 abnormalities in a family with a translocation t(18p-, 21p+). J Ment Defic Res 12:144-161.
12. Jalal SM, Ketterling RP. 2004. Euchromatic variants. In: Wyandt HE, Tonk VS, editors. Atlas of human chromosome heteromorphisms. Dordrecht/Boston/London: Kluwer Academic Publishers. Chapter 6. p 75-84.
13. Johansson B, Mertens F, Palm L, Englesson I, Kristoffersson U. 1988. Duplication 18p with mild influence on the phenotype. Am J Med Genet 4:871-874.
14. Kotzot D. 2002. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence? J Med Genet 39:775-778.
15. Li S, Tuck-Muller CM, Martinez JE, Rowley ER, Chen H, Wertelecki W. 1998. Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH). Am J Med Genet 80:487-490.
16. Liehr T, Claussen U. 2002. Current developments in human molecular cytogenetic techniques. Curr Mol Med 2:283-297.
17. Liehr T, Claussen U, Starke H. 2004. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55-67.
18. 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.
19. Meinecke P, Koske-Westphal T. 1981. Partielle Trisomie 18 (Trisomie 18p) als Folge einer familiären balancierten Translokation t(14;18). Klin Padiat 193:433-438.
20. Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ. 1994. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet 46:423-429.
21. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T. 2001. A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108:199-204.
22. Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A. 2000. Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. Am J Med Genet 92:101-106.
23. Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA. 1993. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet 30:756-760.
24. Rogan PK, Sabol DW, Punnett HH. 1999. Maternal uniparental disomy of chromosome 21 in a normal child. Am J Med Genet 83:69-71.
25. Rosano M, De Salazar E, Brinchi V, Dalapiccola B. 1977. Due casi di síndrome 18p- ed un caso di trisomia 18p in una stressa fratría. Neuropsych Infant 197:1221-1237.
26. San Martin V, Fernandez-Novoa C, Hevia A, No vales A, Fornell J, Galera H. 1981. Partial trisomy of chromosome 18 (pter leads to q11): A discussion on the identification of the critical segment. Ann Genet 24:248-250.
27. Slater H, Shaw JH, Bankier A, Forrest SM, Dawson G. 1995. UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13. J Med Genet 32:493.
28. Stallard R, Krueger S, James RS, Schwartz S. 1995. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 57:14-18.
29. Starke H, Raida M, Trifonov V, Clement JH, Loncarevic IF, Heller A, Bleck C, Nietzel A, Rubtsov N, Claussen U, Liehr T. 2001. Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia- negative chronic myelogenous leukaemia. Br J Haematol 113:435-438.
30. 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. 2003. Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification. Hum Genet 114:51-67.
31. Takeda K, Okamura T, Hasegawa T. 1989. Sibs with tetrasomy 18p born to a mother with trisomy 18p. J Med Genet 26:195-197.
32. Taylor KM, Wolfinger HL, Brown MG, Chadwick DL. 1975. Origin of a small metacentric chromosome: Familial and cytogenic evidence. Clin Genet 8:364-369.
33. Turleau C, de Grouchy J. 1977. Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet 12:361-371.
34. Wolff DJ, Raffel LJ, Ferre MM, Schwartz S. 1991. Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype. Am J Med Genet 41:319-321.