Detection of deletions in de novo "balanced" chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

Genetics in Medicine

Volumn 6, Issue 2, 2004, Pages 81-89

  Astbury, Caroline ^a   Christ, Laurie A ^a   Aughton, David J ^b   Cassidy, Suzanne B ^c   Kumar, Arun ^d   Eichler, Evan E ^a   Schwartz, Stuart ^a,e  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WILLIAM BEAUMONT HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d INDIAN INSTITUTE OF SCIENCE   (India)

^e Center for Human Genetics   (United States)

Author keywords

BACs; Balanced chromosomal rearrangements; Cryptic deletions; FISH; Phenotypic abnormalities

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE LOSS; HUMAN; INFANT; MALE; MEDICAL GENETICS; MOLECULAR GENETICS; PHENOTYPE;

CHROMOSOME BANDING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, X; CYTOGENETIC ANALYSIS; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMAN GENOME PROJECT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE; SPECTROPHOTOMETRY, ULTRAVIOLET;

BACTERIA (MICROORGANISMS);

EID: 1942476904     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000117850.04443.C9     Document Type: Article

References (24)

1. Hsu LYF. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky A, editor. Genetic disorders and the fetus: diagnosis, prevention and treatment. Baltimore: Johns Hopkins University Press, 1998:179-248.
2. Warburton D. De novo balanced chromosomal rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution ofbreakpoints. Am J Hum Genet 1991;49:995-1013.
3. Freeman SB, Muralidharan K, Pettay D, Blackston RD, May KM. Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX, t(11;20)(q13.1;q13.13)]. Am J Med Genet 1996;61:340-344.
4. Tar A, Ion A, Solyom J, Gyorvari B, Stephenson C, Barbaux S et al. Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13. Am J Med Genet 1997;68:231-235.
5. Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L et al. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and de novo 2;8 translocation. J Med Genet 2002;39:391-399.
6. Puissant H, Azoulay M, Serre JL, Piet LL, Junien C. Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient. Hum Genet 1988;79:280-282.
7. Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH et al. Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements. Hum Genet 1998;103:173-178.
8. Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G et al. Disease associated balanced chromosomal rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet 2000;37:858-865.
9. Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I et al. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome. Eur J Hum Genet 2002;10:352-361.
10. Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A et al. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectroclactyly, prognathism (MMEP) phenotype. J Med Genet 2002;39:893-899.
11. Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J et al. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 1995;4:415-422.
12. Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA et al. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am J Hum Genet 1996;59:23-31.
13. James RS, Temple IK, Patch C, Thompson EM, Hassold T, Jacobs P. A systematic search for uniparental disomyin carriers of chromosomal translocations. Eur J Hum Genet 1994;2:83-95.
14. Robinson WP, Bernasconi F, Basaran S, Yukel-Apak M, Neri G, Serville F et al. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 1994;54:290-302.
15. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 1960;20:613-616.
16. Hoehn H. Fluid cell culture. In: Milunsky A, editor. Genetic disorders and the fetus: Diagnosis, prevention and treatment. Baltimore: Johns Hopkins University Press, 1998:128-149.
17. Barch MJ, Knutsen T, Spurbeck, JL, editors. The ACT cytogenetics laboratory manual, 3rd ed. New York: Raven Press, 1997.
18. Yunis JJ. High resolution ofhuman chromosomes. Science 1976;191:1268-1270.
19. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;2: 971-972.
20. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986;73:320-326.
21. Latt SA, Willard HF, Gerald PS. BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma 1976;57:135.
22. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A 1986;83:2934-2938.
23. Astbury C, Christ LA, Aughton DJ, Cassidy SB, Fujimoto A, Pletcher BA et al. Delineation of complex chromosomal rearrangements: evidence for increased complexity. Hum Genet. In press.
24. Emanuel BS. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X/9 translocation in a female with DMD. Am J Hum Genet 1981;33: 103A.