Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2768-2774

  Sung, Pi Lin ^a,b,c   Chang, Sheng Ping ^b,c   Wen, Kuo Chang ^b,c   Chang, Chia Ming ^b,c   Yang, Ming Jie ^b,c   Chen, Lin Chao ^b   Chao, Kuan Chong ^b,c   Huang, Chi Ying F ^c   Li, Yueh Chun ^d   Lin, Chyi Chyang ^e  

^a Chia Yi Veterans Hospital   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^e CHINA MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Fluorescence in situ hybridization (FISH); Genome wide oligonucleotide microarray; Marker chromosome 10; Small supernumerary marker chromosomes (sSMCs); Spectral karyotyping (SKY); Trisomy 10p syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 10; CHROMOSOME 10P; CHROMOSOME 10Q; CYTOGENETICS; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENOTYPE; HUMAN; KARYOTYPE; MARKER CHROMOSOME; MICROARRAY ANALYSIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RING CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTRAL KARYOTYPING; SUPERNUMERARY CHROMOSOME; TELOMERE; ULTRASOUND;

ADULT; CHROMOSOME BREAKAGE; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY;

EID: 71949102092     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32878     Document Type: Article

References (35)

1. Anderlid BM, Sahĺen 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. (Pubitemid 32206961)
2. Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, Ponder BAJ, Lyonnet S. 1995. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 4:1381-1386.
3. Berend SA, Shaffer LG, Bejjani BA. 1999. Pure trisomy 10p involving an isochromosome 10p. Clin Genet 55:367-371.
4. Blennow E, Tillberg E. 1996. Small extra ring chromosome derived from chromosome 10p:clinical report and characterization by FISH. J Med Genet 33:399-402. (Pubitemid 26147873)
5. Buckton KE, Spowart G, Newton MS, Evans HJ. 1985. Forty four probands with an additional "marker" chromosome. Hum Genet 69:353-370.
6. Ceccherini I, Bocciardi R, Yin L, Pasini B, Hofstra R, Takahashi M, Romeo G. 1993. Exon structure and flanking intronic sequences of the human ret proto-oncogene. Biochem Biophys Res Commun 196:1288-1295. (Pubitemid 23347589)
7. Chen Z, Meloni-Erig A, Palumbos JC, Guan XY, Carroll KL, Dent KM, Carey JC. 2001. Pure tirsomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics. Am J Med Genet 102:379-382. (Pubitemid 32778025)
8. Clement SJ, Leppig KA, Jarvik GP, Kapur RP, Norwood TH. 1996. Trisomy 10p: Report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. Am J Med Genet 65:197-204. (Pubitemid 26374793)
9. Crolla JA, Long F, River H, Dennis NR. 1998. 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. (Pubitemid 28079652)
10. Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Scull M, Miccoli P, Basolo F, Grasso L, Pacini F, Pinchera A. 2007.RETgenetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocr Metab 92:4725-4729. (Pubitemid 350223450)
11. Ferguson-Smith MA, Yates JRW. 1984. Maternal age specific rates for chromosomes aberrations and factors influencing them: A report of a collaborative European study on 52965 amniocenteses. Prenat Diagn 4:5-44.
12. Fryns JP, Deroover J, Haegeman J, Van den Berghe H. 1979. Partial duplication of the short arm of chromosome 10. Karyotype: 46, XX, dup(10p)(pter→p12::p12::p12→qter). Hum Genet 47:217-220. (Pubitemid 9250688)
13. Hook EB, Cross PK. 1987. Extra structurally abnormal chromosomes (ESAC) detected at amniocenteses: Frequency in approximately 75000 prenatal cytogenetic diagnoses and associations with maternal and paternal age. Am J Hum Genet 40:83-101.
14. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. 2006. Super-numeraray marker chromosomes detected in 100000 prenatal diagnoses: Molecular cytogenetic studies and clinical significance. Prenat Diagn 26:1142-1150. (Pubitemid 44935278)
15. Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, Fertitta A, Carrano AV, Nagao M. 1989. Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene 4:1519-1521. (Pubitemid 20008934)
16. Jido JW, Wells RA, Baldini A, Reeders ST. 1991. Improved telomere detection using a telomere repeat probe (TTAGGG)n generated by PCR. Nucl Acid Res 19:47-80.
17. Kozma C, Meck J. 1994. Familial 10p trisomy resulting from a maternal pericentric inversion. Am J Med Genet 49:281-287. (Pubitemid 24042003)
18. Levy B, Papenhausen P, Tepperberg J, Dune T, Fallet S, Magid M, Kardon N, Hirschhorn K, Warburton P. 2000. 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. (Pubitemid 32110360)
19. Liehr T, Claussen U, Starke H. 2004. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55-67. (Pubitemid 39140346)
20. Mégarbané A, Gosset P, Souraty P, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M. 2001. Chromosome 10p11.2-p12.2 Duplication: Report of a patient and review of the literature. Am J Med Genet 104:204-208. (Pubitemid 33095536)
21. Neumann HPH, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C. 2002. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466.
22. Nomoto N, Nagauchi O. 1979. A partial 10p trisomy: 46, rec(10),dup p, inv(10)(p13q26)pat. Jpn J Hum Genet 24:165A.
23. Sachs ES, Van Hemel JO, Den Hollander JC, Jahoda MG. 1987. Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies. Prenat Diagn 7:81-889.
24. Schinzel A. 2001. 2001. Catalogue of unbalanced chromosome aberrations in man. 2nd edition. Berlin: De Gruyter.
25. SchlegelM,Baumer A, RiegelM,Wiedemann U, Schinzel A. 2002. 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. (Pubitemid 34538573)
26. Shaffer LG, Tommerup N. 2005. ISCN 2005: An International System for Human Cytogenetic Nomenclature. Basel: S. Karger.
27. Shirahama S, Ogura K, Takami H, Ito K, Tohsen T, Miyauchi A, Nakamura Y. 1998. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106. (Pubitemid 128508963)
28. Snyder FF, Lin CC, Rudd NL, Shearer JE, Heikkila EM, Ho JJ. 1984. A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet 67:187-189.
29. Starke H, Nietzel A, Weise A, Heller A, Marsek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Sunger 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 classification. Hum Genet 114:51-67. (Pubitemid 38165536)
30. Stengel-Rutkowski S, Murken JD, Frankenberger R, Riechert M, Spiess H, Rodewald A, Stene J. 1977.Newchromosomal dysmorphic syndromes. 2. Trisomy 10p. Euro J Pediatr 126:109-125. (Pubitemid 8187759)
31. Trimborn M, Grueters A, Neitzel H, Tönnies H. 2005. First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature. Cytogenet Genome Res 108:278-282. (Pubitemid 40082263)
32. Vincenzo B, Ronald JWTYF, Maurice JM. 1998. Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling. Prenat Diagn 18:384-389.
33. 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. (Pubitemid 21891747)
34. Wilson MG, Towner JW, Forsman I. 1980. Decreasing mosaicism in Down's syndrome. Clin Genet 17:335-340.
35. Yip MY, Williams J, Goddard A, Campbell P, Lambert I, Smithells RW. 1990. Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation. JMed Genet 27:188-191. (Pubitemid 20104747)