AT-rich palindromes mediate the constitutional t(11;22) translocation

American Journal of Human Genetics

Volumn 68, Issue 1, 2001, Pages 1-13

  Edelmann, L ^a,b   Spiteri, E ^a   Koren, K ^a   Pulijaal, V ^c   Bialer, M G ^d   Shanske, A ^c   Goldberg, R ^a   Morrow, B E ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MOUNT SINAI MEDICAL CENTER   (United States)

^c MONTEFIORE MEDICAL CENTER   (United States)

^d NORTH SHORE UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PALINDROMIC DNA;

ANIMAL CELL; ARTICLE; AT RICH SEQUENCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 22Q; CHROMOSOME TRANSLOCATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; DIGEORGE SYNDROME; DNA STRUCTURE; GENE DELETION; GENE REARRANGEMENT; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGENY; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SEQUENCE HOMOLOGY; SYNDROME; VELOCARDIOFACIAL SYNDROME;

EID: 0035159359     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316952     Document Type: Article

References (46)

1. Palindrome resolution and recombination in the mammalian germ line
2. High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions
3. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
4. Genome instability in a region of human DNA enriched in Alu repeat sequences
5. Role of chromosome aberrations in recurrent abortion: A study of 269 balanced translocations
6. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
7. Instability of long inverted repeats within mouse transgenes
8. The sbcC and sbcD genes of Escherichia coil encode a nuclease involved in palindrome inviability and genetic recombination
9. Palindromes as substrates for multiple pathways of recombination in Escherichia coli
10. A new concept of the cellular basis of immunity
11. The DNA sequence of human chromosome 22
12. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
13. A common molecular basis for rearrangement disorders on chromosome 22q11
14. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation
15. The 11q;22q translocation: A European collaborative analysis of 43 cases
16. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5 Mb region of overlap on chromosome 22q11
17. Inverted DNA repeats: A source of eukaryotic genomic instability
18. Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome
19. The aetiology of the cat eye syndrome reconsidered
20. Instability of a plasmid-borne inverted repeat in Saccharomyces cerevisiae
21. The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific Alu-mediated recombination
22. The second case of a t(17;22) in a family with neurofibromatosis type 1: Sequence analysis of the breakpoint regions
23. Translocation breakpoint maps 5 kb 3′ from TWIST in a patient affected with Saethre-Chotzen syndrome
24. Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17)
25. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
26. Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
27. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
28. Congenital heart disease in supernumerary der(22), t(11;22) syndrome
29. Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions
30. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
31. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
32. T(11;22)(q23;q11.2) in acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes
33. Chromosome translocations in couples with multiple spontaneous abortions
34. Disruption of two novel genes by a translocation co-segregating with schizophrenia
35. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
36. Tandem duplication of proximal 22q: A cause of cat-eye syndrome
37. Mutations in POL1 increase the mitotic instability of tandem inverted repeats in Saccharomyces cerevisiae
38. Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction: Delineation of a common clinical picture and report of nine new cases from six families
39. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families
40. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
41. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
42. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome
43. Fine mapping of the constitutional translocation t(11;22)(q23;q11)
44. Template secondary structure promotes polymerase jumping during PCR amplification
45. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
46. Site-specific reciprocal translocation t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction