Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization

Cytogenetics and Cell Genetics

Volumn 76, Issue 1-2, 1997, Pages 68-71

  Levy, B ^a   Gershin, I F ^a   Desnick, R J ^a   Babu, A ^a   Gelb, B D ^a   Hirschhorn, K ^a   Cotter, P D ^a  

^a BETH ISRAEL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME PAINTING; CHROMOSOME TRANSLOCATION; CONGENITAL MALFORMATION; DNA HYBRIDIZATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE; LYMPHOCYTE CULTURE; NEWBORN; PRIORITY JOURNAL; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; NUCLEIC ACID HYBRIDIZATION; TRANSLOCATION, GENETIC;

EID: 0030977772     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134518     Document Type: Article

References (22)

1. Blennow E, Brondum K, Hukan T, Carter NP, Kristof-fersson U, Holmberg E, Gillberg C, Nordenskjdld M: Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J med Genet 55:85-94 (1995).
2. Blennow F, Bui TH, Kristol Tersson U, Vujie M. Anner-en G. Holmberg E. Nordenskjdld M: Swedish survey on extra structurally abnormal chromosomes in 39.105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14:1019-1028 (1994).
3. Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J: Comparative genomic hybridization in clinical cytogenetics. Am J hum Genet 57:1211-1220 (1995).
4. DuManoir S, Kallioniemi OP, Lichtcr P, Piper J, Ben-edetti PA, Carothers AD, Fames JA, Garcia-Sagre-do JM, Gerdes T, Giollant M, Hcmery B, Isola J, Maahr J, Morrison M, Perry P, Stark M, Sudar D, van Vliet LJ, Vcrwoerd N, Vrolijk J: Hardware and software requirements for quantitative analysis of comparative genomic hybridization. Cytometry 19:4-9 (1995).
5. Florijn RJ, Slats J, Tanke HJ, Raap AK: Analysis of antifading reagents for fluorescence microscopy. Cytometry 19:177-182 (1995).
6. Francke U, Weber F, Sparkes RS, Mattson PD, Mann J: Duplication 11 (q21 to 23-qter) syndrome. Birth Defects: Original Article Series, Vol 13. pp 167-186 (The National Foundation March of Dimes. White Plains 1977).
7. Johnson GD, de C Nogueira Araujo GM: A simple method of reducing the fading of immunofluorescence during microscopy. J immunol Meth 43:349-350 (1981).
8. Joseph P, Kimm J, Kalyan-Raman UP, Nixon JP, Hiller J: Terminal deletion of the long arm of chromosome 5 [abstract). Am J hum Genet 47:A31 (1990).
9. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D: Comparative genomic hybridization for molecular cytogenetic analysis of tumors. Science 258:818-821 (1992).
10. Kallioniemi OP, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW, Pinkel D: Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chrom Cancer 10:231-243 (1994).
11. Kallioniemi OP, Kallioniemi A, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D: Comparative genomic hybridization: a rapid new method for detecting and mapping DNA amplification in tumors. Sem Cancer Biol 4:41-46 (1993).
12. Kleczkowska A, Fryns JP, Van den Berghe H: A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.lqter). Annls G6net 36:126-128 (1993).
13. Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene CL, Raffel LJ, Sullivan B, Schwartz S: Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. Am J hum Genet 52:1067-1073 (1993).
14. Ohta T, Tohnta T, Soejima H, Fukushinta Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N: The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chronto-some-band painting. Hum Genet 92:1-5 (1993).
15. Piper J, Rutovitz D, Sudar D, Kallioniemi A, Kallioniemi OP, Waldman FM, Gray JW, Pinkel D: Computer image analysis of comparative genomic hybridization. Cytometry 19:10-26 (1995).
16. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. 2nd Ed (Cold Spring Harbor Laboratory, Cold Spring Harbor 1989).
17. Schrock E, DuManoir S, Veldman T, Schoell B, Weinberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Reid T: Multicolor spectral karyotyping of human chromosomes. Science 273:494-497 (1996).
18. Schrock E Thiel G, Lozanova T, du Manoir S, MelTert MC, Jauch A, Speicher MR, Numberg P, Vogel S, Janisch W, Donis-Keller H, Ried T, Witkowski R, Cremer T: Comparative genomic hybridization of human malignant gliomas reveals multiple amplification sites and nonrandom chromosomal gains and losses. Am J Pathol 144:1203-1218 (1994).
19. Speicher MR, Ballard SG, Ward DC: Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genet 12:368-375 (1996).
20. Thangavelu M, Pergament E, Espinosa R, Bohlander SK: Characterization of marker chromosomes by microdisscction and fluorescence in situ hybridization. Prenat Diagn 14:583-588 (1994).
21. Vemta RS, Babu A: Human Chromosomes: Principles and Techniques, 2nd Ed (McGraw-Hill. New York 1994).
22. Viersbach R, Schwanitz G, Nothen MM: Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes. Hum Genet 93:663-667 (1994).