Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

Genetics in Medicine

Volumn 3, Issue 1, 2001, Pages 6-13

  Shaikh, Tamim H ^a   Kurahashi, Hiroki ^a   Emanuel, Beverly S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

22q11; Deletion and translocation; Duplication; Evolution

Indexed keywords

CAT CRY SYNDROME; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONFERENCE PAPER; DIGEORGE SYNDROME; FACE MALFORMATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC MODEL; GENETIC ORGANIZATION; GENETIC STABILITY; GENOME; HUMAN; MOLECULAR EVOLUTION; MONKEY; NONHUMAN; NUCLEOTIDE REPEAT; PREDATION; RECURRENT DISEASE; SEQUENCE ANALYSIS; SUPERNUMERARY CHROMOSOME; VELOCARDIOFACIAL SYNDROME;

FELIS CATUS; PLATYRRHINI;

EID: 0035746665     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200101000-00003     Document Type: Conference Paper

References (52)

1. Parameters of the human genome
2. Human chromosome 22
3. Characterization of the supernumerary chromosome in cat eye syndrome
4. The 11q;22q translocation: A European collaborative analysis of 43 cases
5. Site-specific reciprocal translocation, t(11;22)(q23;q11) in several unrelated families with 3:1 meiotic disjunction
6. The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families
7. A deletion in chromosome 22 can cause DiGeorge syndrome
8. The association of the DiGeorge anomalad with partial monosomy of chromosome 22
9. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
10. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
11. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
12. Prevalence of 22q11 microdeletions in DiGeorge, and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
13. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22
14. Confirmation that the velo-cardiofacial syndrome is associated with haplo-insufficiency of genes at chromosome 22
15. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
16. Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11
17. Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a common deleted region
18. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
19. The organization of gamma-glutamyltransferase genes and other low copy repeats in human chromosome 22q11
20. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
21. Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions
22. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
23. A common molecular basis for rearrangement disorders on chromosome 22q11
24. Der(22) syndrome, and Velo-Cardio-Facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11
25. Clustered 11q23, and 22q11 breakpoints, and 3.1 meiotic malsegregation in multiple unrelated t(11;22) families
26. Regions of genomic instability on 22q11, and 11q23 as the etiology for the recurrent constitutional t(11;22)
27. The DNA sequence of human chromosome 22
28. Basic local alignment search tool
29. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position specific gap penalties and weight matrix choice
30. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation
31. The second case of a t(17;22) in a family with neurofibromatosis type 1: Sequence analysis of the breakpoint regions
32. Tightly Clustered 11q23, and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)
33. A molecular timescale for vertebrate evolution
34. Evolution of the Master Alu Gene(s)
35. High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions
36. The 22q11.2 deletion: Parental origin and meiotic mechanism
37. Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome
38. Deletion of 22q11 in two brothers with different phenotype
39. First report of a case with manifestations of DiGeorge/Velocardiofacial syndrome (VCFS) and microdeletion 22q11.2 mosaicism
40. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
41. Clustering of DiGeorge/velocardiofacial-associated translocations suggestive of a translocation "hot spot"
42. Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2)
43. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
44. Pathological consequences of sequence duplications in the human genome
45. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
46. Charcot-Marie-Tooth disease: Lessons in genetic mechanisms
47. Large genomic dulicons map to sites of instability in Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
48. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
49. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
50. A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23
51. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
52. Molecular mechanism for duplication 17p11.2 - The homologous recombination reciprocal of the Smith-Magenis microdeletion