Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH

Human Genetics

Volumn 109, Issue 4, 2001, Pages 440-451

  Joyce, C ^a   Dennis, N ^b   Cooper, S ^b   Browne, C ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; POPULATION RESEARCH; PRIORITY JOURNAL; SCREENING TEST; TELOMERE;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; DEVELOPMENTAL DISABILITIES; DUCTUS ARTERIOSUS, PATENT; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; MONOSOMY; PHENOTYPE; RECOMBINATION, GENETIC; SENSITIVITY AND SPECIFICITY; SYNDROME; TELOMERE; TRISOMY;

EID: 0035173443     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100588     Document Type: Article

References (65)

1. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
2. Subtelomeric rearrangements detected by FISH in patients with idiopathic mental retardation
3. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
4. Duplication of 8p23.1: A cytogenetic anomaly with no established clinical significance
5. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
6. Combined immunocytogenetic and molecular cytogenetic analysis of meiosis I human spermatocytes
7. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region
8. Detection of a subtle rearrangement of chromosome 22 using molecular techniques
9. A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination
10. Structure and polymorphism of human telomere-associated DNA
11. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
12. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
13. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
14. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients
15. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome
16. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
17. Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements
18. Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains
19. Molecular-cytogenetic detection of a deletion of 1p36.3
20. Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6
21. Mild mental retardation in Swedish school children
22. The IL-9 receptor gene (IL9R): Genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter
23. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
24. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
25. Subtle chromosomal rearrangements in children with unexplained mental retardation
26. An optimised set of human telomere clones for studying telomere integrity and architecture
27. Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features
28. Chromosome abnormalities in pupils attending ESN/M schools
29. Further studies on bivalent chiasma frequency in human males with normal karyotypes
30. Cryptic translocations and telomere integrity
31. Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionary conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region
32. The means to an end: Exploring human telomeres
33. A complete set of human telomeric probes and their clinical application
34. Clinical, cytogenetic, and molecular characterization of seven patients with deletion of chromosome 22q13.3
35. Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome
36. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
37. Cryptic subtelomeric translocations in the 22q13 deletion syndrome
38. Two 22q telomere deletions serendipitously detected by FISH
39. The genetic basis for mental retardation
40. Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: A clinical and molecular study
41. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
42. Partial monosomy for chromosome 22 in a patient with del(22)(pter→q13.1::q13.33→qter)
43. Distribution of olfactory receptor genes in the human genome
44. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
45. Correlations between isochores and chromosomal bands in the human genome
46. Evaluation of the child with idiopathic mental retardation
47. Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing
48. Caution: Telomere crossing
49. Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
50. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
51. Monosomy 1p36
52. Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35→qter: Molecular cytogenetic analysis and clinical phenotype in two generations
53. Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
54. Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients
55. FISH analysis of microaberrations near telomeric chromosomal regions in children with mental retardation
56. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a "pure" partial monosomy syndrome
57. Fluorodeoxyuridine synchronization of bone marrow cultures
58. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms
59. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16
60. Probable inference, the law of succession, and statistical inference
61. The telomeric 60 kb of chromosome 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p
62. Two patients with 22q13.3 deletions have similar facies and developmental patterns