Individuals with abnormal phenotype and normal G-banding karyotype: Improvement and limitations in the diagnosis by the use of 24-colour FISH

Human Genetics

Volumn 106, Issue 4, 2000, Pages 392-398

  Bezrookove, Vladimir ^a   Hansson, Kerstin ^a   Van Der Burg, Marja ^a   Van Der Smagt, Jasper J ^a   Hilhorst Hofstee, Yvonne ^a   Wiegant, Joop ^a   Beverstock, Geoff C ^a   Raap, Anton K ^a   Tanke, Hans ^a   Breuning, Martijn H ^a   Rosenberg, Carla ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME BANDING PATTERN; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; KARYOTYPE; MALE; MENTAL DEFICIENCY; NEWBORN; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK;

EID: 0034015899     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000268     Document Type: Article

References (24)

1. Ariyama Y, Sakabe T, Shinomiya T, Mori T, Fukuda Y, Inazawa J (1998) Identification of amplified DNA sequences on double minute chromosomes in a leukemic cell line KY821 by means of spectral karyotyping and comparative genomic hybridization. J Hum Genet 43:187-190
2. Carter N, Ferguson-Smitth MA, Perryman MT, Telenius H, Pelmear AH, Leversha MA, Glanct MT, Wood SL, Cook K, Dyson HM, and et al (1992) Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet 29:299-307
3. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9: 132-140
4. Haddad BR, Schrock E, Meek J, Cowan J, Young H, Ferguson Smith MA, Manoir S du, Ried T (1998). Identification of de novo chromosomal markers and derivatives by spectral karyotyping. Hum Genet 103:619-625
5. Kant SG, Oudshoorn A, Gi CV, Zonderland HM, Van Haeringen A (1998) The Catel-Manzke syndrome in a female infant. Genet Couns 9:187-190
6. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC (1988) Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80:224-234
7. Macville M, Schrock E, Padilla Nash H, Keck C, Ghadimi BM, Zimonjic D, Popescu N, Ried T (1999) Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping. Cancer Res 59:141-150
8. National Institutes of Health and Institute of Molecular Medicine Collaboration (1996) A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89
9. Nederlof PM, Flier S van der, Wiegant J, Raap AK, Tanke HJ, Ploem JS, Ploeg M van der (1990) Multiple fluorescence in situ hybridization. Cytometry 11:126-131
10. Padilla-Nash HM, Nash WG, Padilla GM, Roberson KM, Robertson CN, Macville M, Schröck E, Ried T (1999) Molecular cytogenetic analysis of the bladder carcinoma cell line BK-10 by spectral karyotyping. Genes Chromosom Cancer 25:53-59
11. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85: 9138-9142
12. Rao PH, Cigudosa JC, Ning Y, Calasanz MJ, Iida S, Tagawa S, Michaeli J, Klein B, Dalla Favera R, Jhanwar SC, Ried T, Chaganti RS (1998) Multicolor spectral karyotyping identifies new recurring breakpoints and translocations in multiple myeloma. Blood 92:1743-1748
13. Rosenberg C, Borovick CL, Canonaco RS, Sichero LC, Queiroz AP, Vianna Morgante AM (1995) Identification of a supernumerary marker derived from chromosome 17 using FISH. Am J Med Genet 59:33-35
14. Rosenberg C, Mostert M, Bakker-Schut T, Pol M van de, Echten J van, Jong B de, Raap AK, Tanke HJ, Oosterhuis JW, Looijenga LH (1998a) Chromosomal contitution of human spermatocytic seminomas; comparative genomic hybridization supported by conventional and interphase cytogenetics. Genes Chromosom Cancer 23:286-291
15. Rosenberg C, Navajas L, Vagenas DF, Bakker E, Vainzof M, Passos-Bueno MR, Takata RI, Ommen GJ van, Zatz M, Den Dunnen JT (1998b) Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridisation. Neuromuscul Disord 8:447-452
16. Schröck E, Manoir S du, Veldman T, Schoell B, Wienberg J, Ferguson Smith MA, Ning Y, Ledbetter DH, Bar Am I, Soenksen D, Garini Y, Ried T (1996) Multicolor spectral karyotyping of human chromosomes. Science 273:494-497
17. Schröck E, Veldman T, Padilla Nash H, Ning Y, Spurbeck J, Jalal S, Shatter LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, Manoir S du, Ried T (1997) Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101:255-262
18. Speicher MR, Gwyn Ballard S, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluorescent FISH. Nat Genet 12:368-375
19. Tanke HJ, Wiegant J, Gijlswijk RPM van, Bezrookove V. Pattenier H, Heetebrij RJ, Talman EG, Raap AK, Vrolijk J (1999) New strategy for multi-colour fluorescence in situ hybridisation: COBRA: combined binary ratio labelling. Eur J Hum Genet 7:2-11
20. Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, Ferguson Smith MA, Nordenskjold M, Pfragner R, Ponder BA (1992a) Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosome Cancer 4:257-263
21. Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BA, Tunnacliffe A (1992b) Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13:718-725
22. Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher MR (1999) Multiplex-FISH for pre-and postnatal diagnosis applications. Am J Hum Genet 65:448-462
23. Veldman T, Vignon C, Schrock E, Rowley JD, Ried T (1997) Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping, Nat Genet 15:406-410
24. Wiegant J, Bezrookove V, Rosenberg C, Tanke HJ, Raap AK, Zhang H, Bittner M, Trent JM, Meltzer P (2000) Differentially painting human chromosome arms with combined binary ratio-labelling fluorescence in situ hybridisation. Genome Res (in press)