Piecing together the problems in diagnosing low-level chromosomal mosaicism

Genome Medicine

Volumn 2, Issue 7, 2010, Pages

  Robberecht, Caroline ^a   Fryns, Jean Pierre ^a   Vermeesch, Joris Robert ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; GENETIC DISORDER; HUMAN; NOTE; PRIORITY JOURNAL; SYNDROME;

EID: 78751696857     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm168     Document Type: Note

References (31)

1. Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F, Fryns JP, Verbeke G, D'Hooghe T, Moreau Y, Vermeesch JR. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009, 15:577-583. 10.1038/nm.1924, 19396175.
2. Hassold T. Mosaic trisomies in human spontaneous-abortions. Hum Genet 1982, 61:31-35. 10.1007/BF00291327, 7129422.
3. Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, Mahoney MJ, Desnick RJ, Schulman J, Copeland KL, et al. Cytogenetic results from the United-States Collaborative Study on CVS. Prenat Diagn 1992, 12:317-345. 10.1002/pd.1970120503, 1523201.
4. Wang BB, Rubin CH, Williams J III. Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 1993, 13:179-190. 10.1002/pd.1970130305, 8506219.
5. Hunter AG, Clifford B, Cox DM. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet 1985, 28:47-53. 10.1111/j.1399-0004.1985.tb01217.x, 4028501.
6. Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, Delachapelle A. Pallister-Killian syndrome - cytogenetic and molecular studies. Clin Genet 1987, 31:399-405. 10.1111/j.1399-0004.1987.tb02832.x, 2887316.
7. Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, et al. Isochromosome 12P mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome) - report of 11 cases. Am J Med Genet 1987, 27:257-274. 10.1002/ajmg.1320270204, 3605212.
8. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez GN, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, Von Eggeling F, Starke H. Small supernumerary marker chromosomes - progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006, 112:23-34. 10.1159/000087510, 16276087.
9. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man 2001, Berlin, New York: De Gruyter, Walter, Inc.
10. Iourov IY, Yurov YB, Vorsanova SG. Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism. Med Hypotheses 2008, 70:456. 10.1016/j.mehy.2007.05.037, 17651908.
11. Yurov YB, Vorsanova SG, Iourov IY, Demidova IA, Beresheva AK, Kravetz VS, Monakhov VV, Kolotii AD, Voinova-Ulas VY, Gorbachevskaya NL. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet 2007, 44:521-525. 10.1136/jmg.2007.049312, 17483303.
12. Yurov YB, Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Kutsev SI, Pellestor F, Beresheva AK, Demidova IA, Kravets VS, Monakhov VV, Soloviev IV. Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS ONE 2007, 2:e558. 1891435, 17593959, 10.1371/journal.pone.0000558.
13. Yurov YB, Iourov IY, Vorsanova SG, Demidova IA, Kravetz VS, Beresheva AK, Kolotii AD, Monakchov VV, Uranova NA, Vostrikov VM, Soloviev IV, Liehr T. The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res 2008, 98:139-147. 17889509, 10.1016/j.schres.2007.07.035.
14. Iourov IY, Liehr T, Vorsanova SG, Kolotii AD, Yurov YB. Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB). Chromosome Res 2006, 14:223-229. 10.1007/s10577-006-1037-6, 16628493.
15. Kingsbury MA, Yung YC, Peterson SE, Westra JW, Chun J. Aneuploidy in the normal and diseased brain. Cell Mol Life Sci 2006, 63:2626-2641. 10.1007/s00018-006-6169-5, 16952055.
16. Albertson DG, Collins C, McCormick F, Gray JW. Chromosome aberrations in solid tumors. Nat Genet 2003, 34:369-376. 10.1038/ng1215, 12923544.
17. Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D. Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet 1994, 31:694-701. 1050079, 7815438, 10.1136/jmg.31.9.694.
18. Sparkes R, Kimpton C, Watson S, Oldroyd N, Clayton T, Barnett L, Arnold J, Thompson C, Hale R, Chapman J, Urquhart A, Gill P. The validation of a 7-locus multiplex STR test for use in forensic casework. (I). Mixtures, ageing, degradation and species studies. Int J Legal Med 1996, 109:186-194. 10.1007/BF01225517, 9007634.
19. Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002, 3:748-758. 10.1038/nrg906, 12360233.
20. Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1977, 29:94-97. 1685228, 835578.
21. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006, 140:2757-2767.
22. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007, 143A:1679-1686. 10.1002/ajmg.a.31740, 17607705.
23. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006, 43:625-633. 2564583, 16490798, 10.1136/jmg.2005.039453.
24. Shaffer LG, Ledbetter DH, Lupski JR. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalances. The Metabolic and Molecular Basis of Inherited Disease 2001, 1291-1324. New York: McGraw Hill, Scriver C, Beaudet A, Sly W, Valle D, Childs B, Kinzler K, et al.
25. Powis Z, Kang SH, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP. Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. Am J Med Genet A 2007, 143A:2910-2915. 10.1002/ajmg.a.31959, 18000900.
26. Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004, 74:1168-1174. 15127362, 10.1086/421250, 1182080.
27. Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A 2008, 146A:1395-1405. 10.1002/ajmg.a.32287, 18412278.
28. Albertson DG, Pinkel D. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 2003, 12:R145-R152. 10.1093/hmg/ddg261, 12915456.
29. Pinkel D, Albertson DG. Array comparative genomic hybridization and its applications in cancer. Nat Genet 2005, 37:S11-S17. 10.1038/ng1569, 15920524.
30. Wozniak A, Sciot R, Guillou L, Pauwels P, Wasag B, Stul M, Vermeesch JR, Vandenberghe P, Limon J, Debiec-Rychter M. Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with Anatomic site and tumor aggressiveness, irrespective of mutational status. Genes Chromosomes Cancer 2007, 46:261-276. 10.1002/gcc.20408, 17171690.
31. Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 2010, 12:85-92. 10.1097/GIM.0b013e3181cc75d0, 20084009.