Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization

Molecular Medicine Reports

Volumn 3, Issue 6, 2010, Pages 1015-1022

  Manolakos, Emmanouil ^a,l   Kefalas, K ^a   Neroutsou, R ^a   Lagou, M ^a   Kosyakova, N ^j   Ewers, E ^j   Ziegler, M ^j   Weise, A ^j   Tsoplou, P ^a   Rapti, S M ^a   Papoulidis, I ^f   Anastasakis, E ^b   Garas, A ^g   Sotiriou, S ^g   Eleftheriades, M ^c   Peitsidis, P ^k   Malathrakis, D ^h   Thomaidis, L ^d   Kitsos, G ⁱ   Orru, S ^l   Liehr, T ^j   Petersen, M B ^e   Kitsiou Tzeli, S ^d   more..

^a BIOIATRIKI HEALTHCARE GROUP   (Greece)

^b ATHENS NAVAL HOSPITAL   (Greece)

^c EmbryoCare   (Greece)

^d UNIVERSITY OF ATHENS   (Greece)

^e Institute of Child Health   (Greece)

^f Eurogenetica SA   (Greece)

^g UNIVERSITY OF THESSALY   (Greece)

^h Fetal Medicine Centre   (Greece)

ⁱ UNIVERSITY OF IOANNINA   (Greece)

^j JENA UNIVERSITY HOSPITAL   (Germany)

^k ROYAL FREE HOSPITAL   (United Kingdom)

^l UNIVERSITY OF CAGLIARI   (Italy)

more..

Author keywords

Fluorescence in situ hybridization; Pre natal diagnosis; Small supernumerary marker chromosomes

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; ARTICLE; CENTROMERE; CHROMOSOME 16; CHROMOSOME 18; CHROMOSOME 20; CHROMOSOME 9; CHROMOSOME PAINTING; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GREECE; HUMAN; MAJOR CLINICAL STUDY; MARKER CHROMOSOME; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; SMALL SUPERNUMERARY MARKER CHROMOSOME; SUPERNUMERARY CHROMOSOME; UNIPARENTAL DISOMY; Y CHROMOSOME;

EID: 78649463357     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2010.358     Document Type: Article

References (38)

1. Liehr T, Claussen U and Starke H: Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107: 55-67, 2004. (Pubitemid 39140346)
2. Liehr T and Weise A: Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19: 719-731, 2007.
3. Starke H, Nietzel A, Weise A, et al: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114: 51-67, 2003. (Pubitemid 38165536)
4. Crolla JA, Long F, Rivera H and 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. (Pubitemid 28079652)
5. Viersbach R, Engels H, Gamerdinger U and Hansmann M: Delineation of supernumerary marker chromosomes in 38 patients. Am J Med Genet 76: 351-358, 1998. (Pubitemid 28136110)
6. Blennow E, Annerén G, Bui TH, Berggren E, Asadi E and Nordenskjöld M: Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 53: 433-442, 1993. (Pubitemid 23308937)
7. Ferguson-Smith MA and Yates JR: Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52 965 amniocenteses. Prenat Diagn 4: 5-44, 1984.
8. Li MM, Howard-Peebles PN, Killos LD, Fallon L, Listgarten E and Stanley WS: Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis. Prenat Diagn 20: 138-143, 2000. (Pubitemid 30103465)
9. Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML and Hickmann G: Forthy-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. Eur J Hum Genet 13: 1192-1204, 2005.
10. Huang B, Solomon S, Thangavelu M, Peters K and Bhatt S: Supernumerary marker chromosomes detected in 100 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn 26: 1142-1150, 2006. (Pubitemid 44935278)
11. Hook EB and Cross PK: Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age. Am J Hum Genet 40: 83-101, 1987.
12. Singer TS, Kohn G and Yatziv S: Tetrasomy 18p in a child with trisomy 18 phenotype. Am J Med Genet 36: 144-147, 1990. (Pubitemid 20174713)
13. Yu LC, Williams J III, Wang BB, Vooijs M, Weier HU, Sakamoto M and Ying KL: Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization. Prenat Diagn 13: 355-361, 1993. (Pubitemid 23161596)
14. Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C and Schwanitz G: Formation of supernumerary eucromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature. Ann Genet 42: 75-80, 1999.
15. Darnaude MT, Diaz de Bustamante A, Cabello P and Vallcorba I: Genetic counselling in a prenatal marker chromosome identified as an i(18p) by in situ hybridization. Ann Genet 39: 61-63, 1996.
16. Grammatico P, Di Rosa C, Roccella M, Falcolini M, Pelliccia A, Roccella F and del Porto G: Inv dup(15): contribution to the clinical definition of phenotype. Clin Genet 46: 233-237, 1994. (Pubitemid 24299174)
17. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F and Schwartz S: Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet 54: 748-756, 1994.
18. Robinson WR Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H and Shinzel AA: 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, 1993. (Pubitemid 23270819)
19. Cheng SD, Spinner NB, Zachai EH and Knoll JH: Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55: 753-759, 1994.
20. Bettio D, Rizzi N, Giradino D, Gurrieri F, Silvestri G, Grugni G and Larizza L: FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients. Am J Med Genet 68: 99-104, 1997.
21. Kitsiou-Tzeli S, Manolakos E, Lagou M, Anagnostopoulou K, Kontodiou M, Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T and Metaxotou A: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet 2: 8, 2009.
22. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P and Haan EA: Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet 48: 769-782, 1991.
23. Liehr T: sSMC homepage for chromosome 20. http://www.med.uni-jena.de/ fish/sSMC/20.htm. May 2009.
24. Viersbach R, Engels H and Schwanitz G: Identification of supernumerary der(20) chromosomes by FISH in three patients. Am J Med Genet 70: 278-283, 1997.
25. Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ and Norton ME: Prenatal diagnosis of minute supernumerary marker chromosomes. Gynecol Obstet Invest 60: 27-38, 2005.
26. Batista DA, Escallon C, Blakemore KJ and Stetten G: An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line. Prenat Diagn 15: 123-127, 1995.
27. Pinto MR, Fonseca e Silva ML, Aguiar J, Quelhas I and Lima MR: Supernumerary ring chromosome 20 in a mother and her child. Am J Med Genet 133A: 193-196, 2005.
28. Shaikh TH, Budarf ML, Celle L, Zackai EH and Emanuel BS: Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malseg-regation in multiple unrelated t(11;22) families. Am J Hum Genet 65: 1595-1607, 1999.
29. Warburton D: 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, 1991.
30. Kumar C, Kleyman SM, Samonte RV and Verma RS: Marker chromosomes in fetal loss. Hum Reprod 12: 1321-1324, 1997.
31. Liehr T, Grehl H and Rautenstrauss B: Fish analysis of interphase nuclei extracted from paraffin-embedded tissue. Trends Genet 11: 377-378, 1995.
32. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U and Liehr T A new multicolor-FISH approach, for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108: 199-204, 2001.
33. Trifonov V, Seidel J, Starke H, Martina P, Beensen V and Ziegler M: 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat Diagn 23: 427-430, 2003.
34. Chudoba I, Plesch A, Lörch T, Lemke J, Claussen U and Senger G: High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes. Cytogenet Cell Genet 84: 156-160, 1999.
35. Liehr T, Heller A, Starke H, Rubtsov N,Trifonov V, Mrasek K, Weise A, Kuechler A and Claussen U: Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335-339, 2002.
36. Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U and Liehr T Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet 39: 434-439, 2002.
37. Liehr T: Small supernumerary marker chromosomes (sSMC): a spotlight on some nomenclature problems. J Histochem Cytochem 57: 991-993, 2009.
38. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW and Cassidy SB: American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med 3: 206-211, 2001.