Applications of comparative genomic hybridisation in constitutional chromosome studies

Journal of Medical Genetics

Volumn 36, Issue 7, 1999, Pages 511-517

  Breen, Claire J ^a,b   Barton, Lynn ^a   Carey, Aiveen ^a   Dunlop, Adam ^a   Glancy, Mary ^a   Hall, Keara ^a   Hegarty, Anne Marie ^a   Khokhar, M Tariq ^a   Power, Monica ^a   Ryan, Karen ^a   Green, Andrew J ^a,c   Stallings, Raymond L ^a,c  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b Children's Med and Res Foundation   (Ireland)

^c UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

Comparative genomic hybridisation; Constitutional chromosome studies

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA HYBRIDIZATION; FEMALE; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; QUALITY CONTROL; SUPERNUMERARY CHROMOSOME; X CHROMOSOME;

CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NUCLEIC ACID HYBRIDIZATION; SEQUENCE DELETION;

EID: 0032965397     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Forozan F, Karhu R, Kononen J, Kallioniemi A, Kalliomiemi, O. Genome screening by comparative genomic hybridization. Trends Genet 1997;13:405-9.
2. Bryndorf T, Kirchhoff M., Rose H, et al. Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet 1995;57:1211-20.
3. Erdel E, Duba H, Verdorfer I, et al. Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype. Hum Genet 1997;99:596-601.
4. Levy B, Gershin IF, Desnick RJ, et al. Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization. Cytogenet Cell Genet 1997;76:68-71.
5. Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 1998;35:225-33.
6. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermaid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-40.
7. Knight SJL, Horsley SW, Lawrie NM, et al. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997;5:1-8.
8. Browne CE, Dennis NR, Maher E, et al. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 1997;61:1342-52.
9. Barber JC, Joyce CA, Collinson MN, et al. Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 1998;35:491-6.
10. Bateman JB, Maumenee IH, Sparkes RS. Peters' anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol 1984;97:11-15.
11. Speicher MR, Ballard SG, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996;12:368-75.
12. Lichter P, Tang CC, Cal K, et al. High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 1990;247:64-9.