Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1924-1933

  Repnikova, Elena A ^a   Astbury, Caroline ^a,b   Reshmi, Shalini C ^a,b   Ramsey, Sarah N ^a   Atkin, Joan F ^a,b   Thrush, Devon Lamb ^a,b   Mitchell, Anna L ^c,d   Pyatt, Robert E ^a,b   Reber, Kristina ^a,b   Slavin, Thomas ^c,d   Gastier Foster, Julie M ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY   (United States)

^d UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

Chromosomal abnormality; FISH; Microarray; Tissue specific mosaicism

Indexed keywords

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; BLOOD SMEAR; CASE REPORT; CHROMOSOME 10; CHROMOSOME 14; CHROMOSOME 7; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FACE DYSMORPHIA; FEMALE; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MICROARRAY ANALYSIS; NEWBORN; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 84864136229     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35477     Document Type: Article

References (41)

1. AbdAlla S, Lother H, Quitterer U. 2000. AT1-receptor heterodimers show enhanced G-protein activation and altered receptor sequestration. Nature 407: 94-98.
2. Albinsson S, Suarez Y, Skoura A, Offermanns S, Miano JM, Sessa WC. 2010. MicroRNAs are necessary for vascular smooth muscle growth, differentiation, and function. Arterioscler Thromb Vasc Biol 30: 1118-1126.
3. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. 2006. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet Part A 140A: 2757-2767.
4. Bernstein R, Philip P, Ueshima Y. 1984. Fourth International Workshop on Chromosomes in Leukemia 1982: Abnormalities of chromosome 7 resulting in monosomy 7 or in deletion of the long arm (7q-): Review of translocations, breakpoints, and associated abnormalities. Cancer Genet Cytogenet 11: 300-303.
5. Cao H, Wang J, Li X, Florez S, Huang Z, Venugopalan SR, Elangovan S, Skobe Z, Margolis HC, Martin JF, Amendt BA. 2010. MicroRNAs play a critical role in tooth development. J Dent Res 89: 779-784.
6. Caramia GM, Baroncini A, Osimani P, Forabosco A. 1990. Ring chromosome 7: Report of the fifth case. Eur J Pediatr 149: 475-476.
7. Chen CP, Lin SP. 2003. Distal 10q trisomy associated with bilateral hydronephrosis in infancy. Genet Couns 14: 359-362.
8. 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. 2007. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet Part A 143A: 1679-1686.
9. de Grouchy J, Canet J. 1965. Translocation 6-12 13-15 et trisomie partielle 6-12 (probablement 10). Ann Genet 8: 16-20.
10. Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T. 2010. Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency-case report and review of the literature. Am J Med Genet Part A 152A: 732-736.
11. Jefferson J, Shankland S. 2007. Familial nephrotic syndrome: PLCE1 enters the fray. Nephrol Dial Transplant 22: 1849-1852.
12. Johnson D, Wilkie A. 2011. Craniosynostosis. Eur J Hum Genet 19: 369-376.
13. Houge G, Lybaek H, Gulati S. 2009. Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? BMC Med Genet 10: 42.
14. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. 2008. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 40: 237-242.
15. Kaur A, Dhillon S, Garg PD, Singh JR. 2008. Ring chromosome 7 in an Indian woman. J Intellect Dev Disabil 33: 87-94.
16. Kosztolanyi G. 1987. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 75: 174-179.
17. Landgraf P, Rusu M, Sheridan R, Sewer A, Iovino N, Aravin A, Pfeffer S, Rice A, Kamphorst AO, Landthaler M, Lin C, Socci ND, Hermida L, Fulci V, Chiaretti S, Foa R, Schliwka J, Fuchs U, Novosel A, Muller RU, Schermer B, Bissels U, Inman J, Phan Q, Chien M, Weir DB Choksi R, De Vita G, Frezzetti D, Trompeter HI Hornung V, Teng G, Hartmann G, Palkovits M, Di Lauro R, Wernet P, Macino G, Rogler CE, Nagle JW, Ju J, Papavasiliou FN, Benzing T, Lichter P, Tam W, Brownstein MJ, Bosio A, Borkhardt A, Russo JJ, Sander C, Zavolan M, Tuschl T. 2007. A mammalian microRNA expression atlas based on small RNA library sequencing. Cell 129: 1401-1414.
18. Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. 2005. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 42: 121-128.
19. Lund EG, Xie C, Kotti T, Turley SD, Dietschy JM, Russell DW. 2003. Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover. J Biol Chem 278: 22980-22988.
20. 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. 2006. 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 43: 625-633.
21. Migliori MV, Ciaschini AM, Discepoli G, Abbasciano V, Barbato M, Pannone E. 2002. Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3->qter defined by FISH. Ann Genet 45: 9-12.
22. Miller BA, Jayakar P, Capo H. 1992. Child with multiple congenital anomalies and mosaicism 46, XX/46, XX, del (14)(q32.3). Am J Med Genet 44: 635-637.
23. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. 2010. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet 3: 11.
24. Nowinski GP, Van Dyke DL, Tilley BC, Jacobsen G, Babu VR, Worsham MJ, Wilson GN, Weiss L. 1990. The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. Am J Hum Genet 46: 1101-1111.
25. Nucaro AL, Falchi M, Pisano T, Rossino R, Boscarelli F, Stoico G, Milia A, Montaldo C, Cianchetti C, Pruna D. 2010. Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH. Am J Med Genet Part A 152A: 234-236.
26. Powis Z, Kang SH, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP. 2007. Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. Am J Med Genet Part A 143A: 2910-2915.
27. Rodriguez L, Sanchis A, Villa A, Canovas A, Peris S, Estivalis M, Pons S, Martinez-Frias ML. 2000. Ring chromosome 7 and sacral agenesis. Am J Med Genet 94: 52-58.
28. Schneider A, Benzacken B, Guichet A, Verloes A, Bonneau D, Collot N, Dastot-Le-Moal F, Goossens N, Taine L, Landais E, Gaillard D, Doco-Fenzy M. 2008. Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet 16: 680-687.
29. Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. 2008. Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization. Am J Med Genet Part A 146A: 1395-1405.
30. Schimmenti L. 2011. Renal Coloboma syndrome. Eur J Hum Genet 19: 1207-1212.
31. Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17: 182-192.
32. Taysi K, Yang V, Monaghan N, Beraha N. 1983. Partial trisomy 10q in three unrelated patients. Ann Genet 26: 79-85.
33. Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, Bejjani BA, Ballif BC, Shaffer LG. 2009. aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. Am J Med Genet Part A 149A: 914-918.
34. Tonk V, Schneider NR, Delgado MR, Mao J, Schultz RA. 1996. Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2->q24.3)] inherited from a mother mosaic for the abnormality. Am J Med Genet 61: 16-20.
35. Tsai PY, LY H, Chang CH, Chang FM, Kuo PL. 2005. Ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies. Taiwanese J Obstet and Gynecol 44: 297-299.
36. Valduga M, Philippe C, Bach Segura P, Thiebaugeorges O, Miton A, Beri M, Bonnet C, Nemos C, Foliguet B, Jonveaux P. 2010. A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations. Prenat Diagn 30: 333-341.
37. van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. 2002. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 110: 65-72.
38. Varda NM, Kokalj Vokac N, Kanic Z, Bracic K, Erjavec A, Zagradisnik B, Gregoric A. 2003. Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q. Am J Med Genet Part A 123A: 164-168.
39. Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS. 2002. De novo supernumerary ring chromosome 7: First report of a non-mosaic patient and review of the literature. Clin Genet 61: 202-206.
40. Youssoufian H, Pyeritz RE. 2002. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3: 748-758.
41. Yun B, Anderegg A, Menichella D, Wrabetz L, Feltri ML, Awatramani R. 2010. MicroRNA-deficient Schwann cells display congenital hypomyelination. J Neurosci 30: 7722-7728.