Improving characterization of constitutional chromosomal rearrangements by molecular cytogenetics;Apport de la cytogénétique moléculaire au diagnostic pré et postnatal des anomalies chromosomiques

Journal de Gynecologie Obstetrique et Biologie de la Reproduction

Volumn 30, Issue 1 SUPPL., 2001, Pages 75-79

  Romana, S P ^a   Gosset, P ^a   Elghezal, H ^a   Le Lorc'h, M ^a   Ozilou, C ^a   Lapierre, J M ^a   Sanlaville, D ^a   Brisset, S ^a   Turleau, C ^a   Vekemans, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME REARRANGEMENT; CHROMOSOME STRUCTURE; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; MOLECULAR GENETICS; REVIEW;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CYTOGENETIC ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS;

EID: 18844468514     PISSN: 03682315     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (25)

1. Is non-isotopic in situ hybridization finally coming of age?
2. Hybridation in situ fluorescente en cancėrologie
3. Human cytogenetics. A current overview
4. Structure of chromosomal duplicons and their role in mediating human genome disorders
5. A complete set of human telomeric probes their clinical application
6. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
7. CGH as a routine procedure in a clinical cytogenetic laboratory: A one-year assessment
8. Subtle chromosomal rearrangements in children with unexplained mental retardation
9. Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features
10. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
11. Masquerading repeats: Paralogous pitfalls of the human genome
12. t(12;21): A new recurrent translocation in acute lymphoblastic leukemia
13. A simple method for prenatal diagnosis of trisomy 21 on uncultured amniocytes
14. Genetic diagnosis before implantation
15. Outcome of preimplantation genetic diagnosis of translocations
16. Multicolor spectral karyotyping of human chromosomes
17. Karyotyping human chromosomes by combinatorial multi-fluor FISH
18. SKY: A Comprehensive Diagnostic and Research Tool. A review of the first 300 published cases
19. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
20. Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities
21. La puce à ADN en médecine et en science
22. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
23. Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
24. Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene
25. A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genome