Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: The Amsterdam experience

Journal of Medical Genetics

Volumn 39, Issue 8, 2002, Pages 546-553

  Van Karnebeek, C D M ^a,b   Koevoets, C ^a   Sluijter, S ^a   Bijlsma, E K ^a   Smeets, D F M C ^c   Redeker, E J ^a   Hennekam, R C M ^a,b   Hoovers, J M N ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC POLYMORPHISM; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCREENING;

EID: 0036344398     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.8.546     Document Type: Article

References (51)

1. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry
2. Outcome of the routine assessment of patients with mental retardation in a genetics clinic
3. Preventable fraction of mental retardation: Analysis based on individuals with severe mental retardation
4. A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology
5. Abnormal mental development
6. A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourly disturbed patients including fragile X-screening. The Hondsberg experience
7. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
8. GOMBO syndrome: Another "pseudorecessive" disorder due to a cryptic translocation
9. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
10. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
11. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
12. The end of the beginning of chromosome ends
13. Subtelomeric rearrangements detected in patients with idiopathic mental retardation
14. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
15. A new strategy for the detection of subtelomeric rearrangements
16. 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
17. An optimized set of human telomere clones for studying telomere integrity and architecture
18. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
19. Detection of chromosomal aberrations by a whole-genome microsatellite screen
20. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
21. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
22. Characterization of short tandem repeats from thirty-one human telomeres
23. High resolution comparative genomic hybridisation in clinical cytogenetics
24. Detecting rearrangements in children using subtelomeric FISH and SKY
25. Subtelomeric rearrangements as a cause for mental retardation
26. Subtle chromosomal rearrangements in children with unexplained mental retardation
27. Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features
28. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
29. Cryptic subtelomeric rearrangments detected by FISH in mentally retarded and dysmorphic patients
30. FISH analysis of microaberrations at telomeric and subtelomeric regions in chromosomes of children with mental retardation
31. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
32. Congenital anomalies in the newborn infant, including minor variations
33. Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
34. Use of subtelomeric FISH probes to detect abnormalities in patients with idiopathic mental retardation and characterise rearrangements at the limit of cytogenetic resolution
35. High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes
36. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
37. Study of minor anomalies in childhood malignancy
38. Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey
39. The promise and pitfalls of telomere region-specific probes
40. Sequence organization of the human chromosome 2q telomere
41. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
42. Telomere position effect in human cells
43. Switching and signaling at the telomere
44. Screening chromosome ends for learning disability
45. Assembly of microarrays for genome-wide measurement of DNA copy number
46. Old patients, new patients: Subtelomeric testing, "Dont leave clinic without it"
47. Subtelomeric chromosome abnormalities. What's "hiding" in South Carolina?