Subtelomeric chromosome aberrations: Still a lot to learn

Clinical Genetics

Volumn 68, Issue 5, 2005, Pages 397-407

  Moog, Ute ^a,b   Arens, Y H J M ^a   van Lent Albrechts, J C M ^a   Huijts, P E A ^a   Smeets, E E J ^a   Schrander Stumpel, C T R M ^a,b   Engelen, J J M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Cryptic chromosome abnormalities; FISH; Monosomy; Subtelomeric rearrangements; Trisomy

Indexed keywords

CHROMOSOME 10Q; CHROMOSOME 13Q; CHROMOSOME 16Q; CHROMOSOME 18P; CHROMOSOME 18Q; CHROMOSOME 1P; CHROMOSOME 20P; CHROMOSOME 2Q; CHROMOSOME 4Q; CHROMOSOME 7Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PATHOGENESIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; SEQUENCE ANALYSIS; TELOMERE;

CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; FEMALE; GENE DUPLICATION; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; PHENOTYPE; RETROSPECTIVE STUDIES; TELOMERE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 27544454321     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00506.x     Document Type: Review

References (73)

1. Wilkie AO. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. Am J Hum Genet 1993: 53: 688-701.
2. Riegel M, Baumer A, Jamar M et al. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 2001: 109: 286-294.
3. Biesecker L. The end of the beginning of chromosome ends. Am J Med Genet 2002: 107: 263-266.
4. Xu J, Chen Z. Advances in molecular cytogenetics for the evaluation of mental retardation. Am J Med Genet 2003: 117C: 15-24.
5. Lee C, Gisselsson D, Jin C et al. Limitations of chromosome classification by multicolor karyotyping. Am J Hum Genet 2001: 68: 1043-1047.
6. Ness GO, Lybæk H, Houge G. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 2002: 113: 125-136.
7. Kirchhoff M, Pedersen S, Kjeldsen E et al. Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. Am J Med Genet 2004: 127A: 111-117.
8. Schoumans J, Nielsen K, Jeppesen I et al. A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size. Eur J Hum Genet 2004: 12: 447-454.
9. Veltman JA, Schoenmakers EFPM, Eussen BH et al. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 2002: 70: 1269-1276.
10. Harada N, Hatchwell E, Okamoto N et al. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 2004: 41: 130-136.
11. Ballif BC, Kashork CD, Shaffer LG. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 2000: 67: 1356-1359.
12. Van Buggenhout GJ, van Ravenswaaij-Arts C, Mieloo H et al. Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients. Ann Genet 2001: 44: 89-92.
13. Rosenberg MJ, Killoran C, Dziadzio L et al. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 2001: 109: 311-318.
14. Dawson AJ, Putnam S, Schultz J et al. Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dsymorphic features. Clin Genet 2002: 62: 488-494.
15. Hélias-Rodzewicz Z, Bocian E, Stankiewicz P et al. Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies. J Med Genet 2002: 39: e53.
16. Van Karnebeek CD, Koevoets C, Sluijter S et al. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet 2002: 39: 546-553.
17. Rio M, Molinari F, Heuertz S et al. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet 2002: 39: 266-270.
18. Spranger S, Mehl B, Wagner M et al. Subtelomeric screening in clinical practice. Med Genet 2002: 14: A251.
19. Hulley BJ, Hummel M, Wenger SL. Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere FISH probes. Am J Med Genet 2003: 117A: 302-303.
20. Bocian E, Helias-Rodzewicz Z, Suchenek K et al. Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation. Med Sci Monit 2004: 10: CR143-151.
21. Font-Montgomery E, Weaver DD, Walsh L et al. Clinical and cytogenetic manifestations of subtelomeric aberrations: report of six cases. Birth Defects Res A Clin Mol Teratol 2004: 70: 408-415.
22. Koolen DA, Nillesen WM, Versteeg MH et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 2004: 41: 892-899.
23. Kriek M, White SJ, Bouma MC et al. Genomic imbalances in mental retardation. J Med Genet 2004: 41: 249-255.
24. Novelli A, Ceccarini C, Bernardini L et al. High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism. Clin Genet 2004: 66: 30-38.
25. Rodriguez-Revenga L, Badenas C, Sanchez A et al. Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features. Clin Genet 2004: 65: 17-23.
26. Rooms L, Reyniers E, van Luijk R et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 2004: 23: 17-21.
27. Walter S, Sandig K, Hinkel GK et al. Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. Am J Med Genet 2004: 128A: 364-373.
28. Anderlid BM, Schoumans J, Annerén G et al. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 2002: 107: 275-284.
29. Lichter P, Cremer T, Borden J et al. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 1988: 80: 224-234.
30. Heilstedt HA, Ballif BC, Howard LA et al. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 2003a: 64: 310-316.
31. Slavotinek A, Shaffer LG, Shapira SK. Monosomy 1p36. J Med Genet 1999: 36: 657-663.
32. Heilstedt HA, Ballif BC, Howard LA et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003b: 72: 1200-1212.
33. Shapira SK, McCaskill C, Northrup H et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997: 61: 642-650.
34. Giraudeau F, Taine L, Biancalana V et al. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation. J Med Genet 2001: 38: 121-125.
35. De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet 2003: 40: 385-398.
36. Knight-Jones E, Knight S, Heussler H et al. Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Dev Med Child Neurol 2000: 42: 201-206.
37. Redon R, Rio M, Gregory SG et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or 'deletion with positional effect' syndrome? J Med Genet 2005: 42: 166-171.
38. Fan YS, Zhang Y, Speevak M et al. Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genet Med 2001: 3: 416-421.
39. Aldred MA, Sanford RO, Thomas NS et al. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet 2004: 41: 433-439.
40. Chassaing N, De Mas P, Tauber M et al. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. Am J Med Genet 2004: 128A: 410-413.
41. Bijlsma EK, Aalfs CM, Sluitjer S et al. Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 1999: 36: 604-609.
42. Wilson LC, Leverton K, Oude Luttikhuis MEM et al. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995: 56: 400-407.
43. Shrimpton AE, Braddock BR, Thomson LL et al. Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin Genet 2004: 66: 537-544.
44. Giardino D, Finelli P, Gottardi G et al. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet 2003: 122A: 261-265.
45. Lukusa T, Vermeesch JR, Holvoet M et al. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Courts 2004: 15: 293-301.
46. Rossi E, Piccini F, Zollino M et al. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001: 38: 417-420.
47. Roberts AE, Cox GF, Kimonis V et al. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet 2004: 128A: 352-363.
48. Syrrou M, Keymolen K, Devriendt K et al. Glypican 1 gene: good candidate for brachydactyly type E. Am J Med Genet 2002: 108: 310-314.
49. Irving M, Hanson H, Turnpenny P et al. Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet 2003: 123A: 153-163.
50. Scigliano S, Gregoire MJ, Schmitt M et al. Terminal deletion of the long arm of chromosome 10. Clin Genet 2004: 65: 294-298.
51. Lukusa T, Fryns JP. Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence. Genet Courts 2000: 11: 119-126.
52. Moog U, Engelen JJM, van Schrojenstein Lantman-de Valk HMJ et al. Familial cryptic translocation with deletion 4q33-> 4qter and duplication 7q34-> 7qter in brothers with mental retardation, macrocephaly and iriscoloboma. Clin Dysmorphol 2003: 12: 35-39.
53. Pickard BS, Hollox EJ, Malloy MP et al. A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. BMC Med Genet 2004: 5: 21.
54. Tupler R, Berardinelli A, Barbierato L et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996: 33: 366-370.
55. Hengstschläger M, Prusa A, Repa C et al. Subtelomeric rearrangements as neutral genomic polymorphisms. Am J Med Genet 2005: 133A: 48-52.
56. Rigola MA, Plaja A, Mediano C et al. Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. Am J Med Genet 2001: 104: 37-41.
57. Tsukahara M, Imaizumi K, Fujita K et al. Familial Del(18p) syndrome. Am J Med Genet 2001: 99: 67-69.
58. Fryns JP, Kleczkowska A, Devriendt K et al. Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. Genet Couns 1993: 4: 37-41.
59. De Die-Smulders CEM, Engelen JJM, Albrechts JCM, Hamers GJH. Detection of a cryptic translocation t(13;20) (q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding. Am J Med Genet 1999: 86: 385-388.
60. Jones KL. Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders, 1997.
61. Cody JD, Ghidoni PD, DuPont BR et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999: 85: 455-462.
62. Kline AD, White ME, Wapner R et al. Molecular analysis of the 18q-syndrome and correlation with phenotype. Am J Hum Genet 1993: 52: 895-903.
63. Maiwald R, Overhauser J, Laccone F. No evidence for imprinting in distal 18q. J Med Genet 2000: 37: 152-156.
64. Hahm SY, Chitayat D, Iqbal MA et al. Partial duplication 16q: report of two affected siblings resulting from maternal translocation and literature review. Clin Genet 1987: 31: 343-348.
65. Maher ER, Willatt L, Cuthbert G et al. Three cases of 16q duplication. J Med Genet 1991: 28: 801-802.
66. Giardino D, Finelli P, Gottardi G et al. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet 2001: 9: 881-886.
67. Brisset S, Joly G, Ozilou C et al. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. Am J Med Genet 2002: 113: 339-345.
68. Savary JB, Vassuer F, Manouvrier S et al. Trisomy 16q23-> qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Hum Genet 1991: 88: 115-118.
69. Knight SJ, Regan R, Nicod A et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999: 354: 1676-1681.
70. De Vries BB, White SM, Knight SJ et al. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001: 38: 145-150.
71. Baker E, Hinton L, Callen DF et al. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 2002: 107: 285-293.
72. Oostlander AE, Meijer GA, Ylstra B. Microarray-based comparative genomic hybridization and its applications in human genetics. Clin Genet 2004: 66: 488-495.
73. Martin CL, Waggoner DJ, Wong A et al. 'Molecular rulers' for calibrating phenotypic effects of telomere imbalance. J Med Genet 2002: 39: 734-740.