Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Genetics in Medicine

Volumn 7, Issue 2, 2005, Pages 111-118

  Jobanputra, Vaidehi ^a   Sebat, Jonathan ^b   Troge, Jennifer ^b   Chung, Wendy ^a   Anyane Yeboa, Kwame ^a   Wigler, Michael ^a,b   Warburton, Dorothy ^a,c  

^a NewYork Presbyterian Hospital   (United States)

^b Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^c CHILDREN S HOSPITAL OF NEW YORK   (United States)

Author keywords

Cytogenetics; Deletion; Microarray; Oligonucleotide; ROMA

Indexed keywords

ACCURACY; ARTICLE; BRAIN INFARCTION; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 16Q; CHROMOSOME 22Q; CHROMOSOME 4; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONSTIPATION; CORPUS CALLOSUM; EAR MALFORMATION; ECZEMA; FACE DYSMORPHIA; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GENE AMPLIFICATION; GENE DELETION; GENOME ANALYSIS; HUMAN; HUMAN GENOME; HYDRONEPHROSIS; HYPOGLYCEMIA; INFANTILE HYPOTONIA; INFRARED SPECTROSCOPY; JOINT LAXITY; KARYOTYPE; KIDNEY TUBULE ACIDOSIS; MALE; MICROCEPHALY; NEPHROLITHIASIS; OTITIS MEDIA; PRESCHOOL CHILD; PROGNOSIS; PROTEOMICS; REPRESENTATIONAL OLIGONUCLEOTIDE MICROARRAY ANALYSIS; SENSITIVITY ANALYSIS;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CYTOGENETICS; GENE DOSAGE; GENE EXPRESSION PROFILING; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 13844307980     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000153661.11110.FB     Document Type: Article

References (16)

1. Ishkanian AS, Malloff C, Watson SK, deLeeuw R, Chi B, Coe B, Snijders A et al. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004;36:299-303.
2. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H et al. Microarray based comparative genomic hybridization (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004;41:241-248.
3. Lucito R, Healy J, Alexander J, Reiner A, Esposito D, Chi M et al. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 2003;10:2291-2305.
4. Healy J, Thomas EE, Schwartz JT, Wigler M. Annotating large genomes with exact word matches. Genome Res 2003;10:2306-2315.
5. Sebat J, Muthuswamy T, Troge J, Alexander J, Young J, Lundin P et al. Gene copy number polymorphism is common in the human population and widely distributed in the genome. Science 2004;305:525-528.
6. Igarashi T, Sekine T, Inatomi J, Seki G. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. J Am Soc Nephrol 2002;2171-2177.
7. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 1993;45:52-59.
8. Nielsen J, Homma A, Christiansen F, Rasmussen K, Saldana-Garcia P. Deletion long arm 13. Hum Genet 1977;37:339-345.
9. Couturier J, Morichon-Delvallez N, Dutrillaux B. Deletion of band 13q21 is compatible with normal phenotype. Hum Genet 1985;70:87-91.
10. Dean JC, Simpson S, Couzin DA, Stephen GS. Interstitial deletion of chromosome 13: prognosis and adult phenotype. J Med Genet 1991;8:533-535.
11. Dunham A, Matthews LH, Burton J et al. The DNA sequence and analysis of human chromosome 13. Nature 2004;428:522-528.
12. Yu W, Ballif BC, Kashork CD et al. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized Ip36 deletions. Hum Mol Genet 2003;12:2145-2152.
13. Abbas N, Lucking CB, Ricard S, Durr A, Bonifati V, De Michele G, Bouley S et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet 2001;4:567-574.
14. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 2000;342:1560-1567.
15. Hedrich K, Mann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
16. Mantipragada KK, Buckley PG, Diaz de Stahl T, Dumanski JP. Genomic microarrays in the spotlight. Trends Genet 2004;20:87-94.