Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes

Journal of Medical Genetics

Volumn 39, Issue 6, 2002, Pages 434-439

  Weise, A ^a   Starke, H ^a   Heller, A ^a   Tonnies H ^a   Volleth, M ^a   Stumm, M ^a   Gabriele, S ^a   Nietzel, A ^a   Claussen, U ^a   Liehr, T ^a  

^a Institut fur Humangenetik und Anthropologie   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; CHROMOSOME 2P; CHROMOSOME 2Q; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION 2; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LETTER; MALE; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME;

EID: 18444404919     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.6.434     Document Type: Letter

References (32)

1. Chemical differentiation along metaphase chromosomes
2. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
3. A rapid banding technique for human chromosomes
4. Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting
5. Three-color fluorescence in situ hybridization for the simultaneous detection of multiple nucleic acid sequences
6. Karyotyping human chromosomes by combinatorial multi-fluor FISH
7. Multicolor spectral karyotyping of human chromosomes
8. Differentially painting human chromosome arms with combined binary ratio-labeling fluorescence in situ hybridization
9. Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes
10. "Bar-coding" primate chromosomes: Molecular cytogenetic screening for the ancestral hominoid karyotype
11. Cross-species colour segmenting: A novel tool in human karyotype analysis
12. High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes
13. Reconstruction of the female Gorilla gorilla karyotype by Zoo-FISH using 25-color FISH and multicolor banding (MCB)
14. Direct preparatian of uncultured EDTA-treated or heparinized blood for interphase FISH analysis
15. Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
16. A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH)
17. Improved definition of chromosomal breakpoints using high resolution multicolour banding (MCB)
18. Analysis of X-ray-induced aberrations in human chromosome 5 using high-resolution multicolour banding FISH (mBAND)
19. A new rare distamycin A-inducible fragile site, fra(11) (p15.1), found in two acute nonlymphocytic leukemia (ANLL) patients with t(7;11)(p15-p13;p15)
20. Complex familial rearrangement of chromosome 9p24.3 detected by FISH
21. RDCI, the vasoactive intestinal peptide receptor: A candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37
22. 46,XX,der(2)+(2;10)(2pter→2q37::10p13→10pter)[127]/45,X,der(2)+ (2;10)(2pter→2q37::10p13→10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes
23. Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
24. Two cases with interstitial deletions of chromosome 2 and sex reversal in one
25. Interstitial deletion of long arm of chromosome 2(q31q33)
26. Direct duplication 2p14 to 2p23
27. De novo direct duplication 2 (p12→p21) with paternally inherited pericentric inversion 2p11.2 2q12.2
28. Inversion of chromosome 2 (p11p13): Frequency and implications for genetic counselling
29. Familial pericentric inversion of chromosome 2
30. Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion
31. A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25
32. FISH molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II