Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 910-913

  Wang, Jia Chi ^a   Fisker, Thomas ^a   Sahoo, Trilochan ^b  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b CombiMatrix ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; BIRTH WEIGHT; BODY DYSMORPHIC DISORDER; CASE REPORT; CHROMOSOME 19; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHROMOTHRIPSIS; EAR MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HYDRAMNIOS; HYPERTENSION; INFANT; MICROARRAY ANALYSIS; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; RETROGNATHIA; TRACHEOESOPHAGEAL FISTULA; ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INFANT;

EID: 84925590320     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36962     Document Type: Article

References (21)

1. Cai H, Kumar N, Bagheri HC, von Mering C, Robinson MD, Baudis M. 2014. Chromothripsis-like patterns are recurring but heterogeneously distributed features in a survey of 22, 347 cancer genome screens. BMC Genomics 15:82.
2. Fruhmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D. 2013. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism. Eur J Med Genet 56:383-388.
3. Gardner RJ, Sutherland GR, Shaffer LG. 2012. Chromosome abnormalities and genetic counseling. New York: Oxford University Press.
4. Genesio R, Ronga V, Castelluccio P, Fioretti G, Mormile A, Leone G, Conti A, Cavaliere ML, Nitsch L. 2013. Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event. Mol Cytogenet 6:29.
5. Gu H, Jiang JH, Li JY, Zhang YN, Dong XS, Huang YY, Son XM, Lu X, Chen Z. 2013. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis. PLoS ONE 8:e76985.
6. Hastings PJ, Ira G, Lupski JR. 2009. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327.
7. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12:996-1006.
8. Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M, Cuppen E. 2011a. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 20:1916-1924.
9. Kloosterman WP, Hoogstraat M, Paling O, Tavakoli-Yaraki M, Renkens I, Vermaat JS, van Roosmalen MJ, van Lieshout S, Nijman IJ, Roessingh W, van 't Slot R, van de Belt J, Guryev V, Koudijs M, Voest E, Cuppen E. 2011b. Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer. Genome Biol 12:R103.
10. Kloosterman WP, Koster J, Molenaar JJ. 2014. Prevalence and clinical implications of chromothripsis in cancer genomes. Curr Opin Oncol 26:64-72.
11. Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247.
12. Lieber MR. 2010. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annu Rev Biochem 79:181-211.
13. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernandez-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. 2011. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146:889-903.
14. Magrangeas F, Avet-Loiseau H, Munshi NC, Minvielle S. 2011. Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients. Blood 118:675-678.
15. Maher CA, Wilson RK. 2012. Chromothripsis and human disease: Piecing together the shattering process. Cell 148:29-32.
16. Nazaryan L, Stefanou EG, Hansen C, Kosyakova N, Bak M, Sharkey FH, Mantziou T, Papanastasiou AD, Velissariou V, Liehr T, Syrrou M, Tommerup N. 2014. The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2. Eur J Hum Genet 22:338-343.
17. Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR, Mudie LJ, Pleasance ED, Lau KW, Beare D, Stebbings LA, McLaren S, Lin ML, McBride DJ, Varela I, Nik-Zainal S, Leroy C, Jia M, Menzies A, Butler AP, Teague JW, Quail MA, Burton J, Swerdlow H, Carter NP, Morsberger LA, Iacobuzio-Donahue C, Follows GA, Green AR, Flanagan AM, Stratton MR, Futreal PA, Campbell PJ. 2011. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 144:27-40.
18. Thienpont B, Breckpot J, Vermeesch JR, Gewillig M, Devriendt K. 2008. A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications. Eur J Med Genet 51:219-225.
19. Wang JC, Dang L, Fisker T. 2010. Chromosome 6 between-arm intrachromosomal insertion with intrasegmental double inversion: A four-break model. Am J Med Genet A 152A:209-211.
20. Wu C, Wyatt AW, McPherson A, Lin D, McConeghy BJ, Mo F, Shukin R, Lapuk AV, Jones SJ, Zhao Y, Marra MA, Gleave ME, Volik SV, Wang Y, Sahinalp SC, Collins CC. 2012. Poly-gene fusion transcripts and chromothripsis in prostate cancer. Genes Chromosomes Cancer 51:1144-1153.
21. Zack TI, Schumacher SE, Carter SL, Cherniack AD, Saksena G, Tabak B, Lawrence MS, Zhang CZ, Wala J, Mermel CH, Sougnez C, Gabriel SB, Hernandez B, Shen H, Laird PW, Getz G, Meyerson M, Beroukhim R. 2013. Pan-cancer patterns of somatic copy number alteration. Nat Genet 45:1134-1140.