Cryptic subtelomeric rearrangements and X chromosome mosaicism: A study of 565 apparently normal individuals with fluorescent in situ hybridization

PLoS ONE

Volumn 4, Issue 6, 2009, Pages

  Wise, Jasen L ^a   Crout, Richard J ^b   McNeil, Daniel W ^b   Weyant, Robert J ^c   Marazita, Mary L ^c   Wenger, Sharon L ^a  

^a WEST VIRGINIA UNIVERSITY   (United States)

^b West Virginia University School of Dentistry   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FREQUENCY ANALYSIS; HUMAN; HUMAN CELL; INCIDENCE; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MALE; MEDICAL LITERATURE; NUMERICAL CHROMOSOME ABERRATION; PHENOTYPE; RECIPROCAL CHROMOSOME TRANSLOCATION; SEX CHROMOSOME; SEX CHROMOSOME MOSAICISM; TELOMERE; X CHROMOSOME; AGED; CELL LINE; GENE TRANSLOCATION; KARYOTYPING; LYMPHOCYTE; METABOLISM; METAPHASE; METHODOLOGY; MIDDLE AGED; MOSAICISM; ULTRASTRUCTURE;

AGED; ANEUPLOIDY; CELL LINE; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LYMPHOCYTES; MALE; METAPHASE; MIDDLE AGED; MOSAICISM; PHENOTYPE; TELOMERE; TRANSLOCATION, GENETIC;

EID: 67649225390     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005855     Document Type: Article

References (25)

1. Helias-Rodzewicz Z, Bocian E, Stankiewicz P, Obersztyn E, Kostyk E, et al. (2002) Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies. J Med Genet 39: e53.
2. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, et al. (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9: 132-140.
3. Knight SJ, Horsley SW, Regan R, Lawrie NM, Maher EJ, et al. (1997) Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 5: 1-8.
4. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, et al. (1999) Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354: 1676-1681.
5. Joyce CA, Dennis NR, Cooper S, Browne CE (2001) 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. Hum Genet 109: 440-451.
6. Anderlid BM, Schoumans J, Anneren G, Sahlen S, Kyllerman M, et al. (2002) Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 107: 275-284.
7. Van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, et al. (2002) Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet 39: 546-553.
8. Bocian E, Helias-Rodzewicz Z, Suchenek K, Obersztyn E, Kutkowska-Kazmierczak A, et al. (2004) Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation. Med Sci Monit 10: CR143-151.
9. Li R, Zhao ZY (2004) Two subtelomeric chromosomal deletions in forty-six children with idiopathic mental retardation. Chin Med J (Engl) 117: 1414-1417.
10. Adeyinka A, Adams SA, Lorentz CP, Van Dyke DL, Jalal SM (2005) Subtelomere deletions and translocations are frequently familial. Am J Med Genet A 135: 28-35.
11. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, et al. (2006) Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43: 478-489.
12. Estop AM, Cieply KM, Aston CE (1997) The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis. Eur J Hum Genet 5: 78-82.
13. Polk DE, Weyant RJ, Crout RJ, McNeil DW, Tarter RE, et al. (2008) Study protocol of the Center for Oral Health Research in Appalachia (COHRA) etiology study. BMC Oral Health 8: 18.
14. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, et al. (2002) Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107: 285-293.
15. Flint J, Wilkie AO (1996) The genetics of mental retardation. Br Med Bull 52: 453-464.
16. Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, et al. (2004) 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 A 128: 364-373.
17. Wenger SL, Golden WL, Dennis SP, Steele MW (1984) Are the occasional aneuploid cells in peripheral blood cultures significant? Am J Med Genet 19: 715-719.
18. Ford JH, Russell JA (1985) Differences in the error mechanisms affecting sex and autosomal chromosomes in women of different ages within the reproductive age group. Am J Hum Genet 37: 973-983.
19. Fitzgerald PH (1975) A mechanism of X chromosome aneuploidy in lymphocytes of aging women. Humangenetik 28: 153-158.
20. Abruzzo MA, Mayer M, Jacobs PA (1985) Aging and aneuploidy: evidence for the preferential involvement of the inactive X chromosome. Cytogenet Cell Genet 39: 275-278.
21. Russell LM, Strike P, Browne CE, Jacobs PA (2007) X chromosome loss and ageing. Cytogenet Genome Res 116: 181-185.
22. Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M (1995) Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am J Hum Genet 57: 1143-1150.
23. Mukherjee AB, Alejandro J, Payne S, Thomas S (1996) Age-related aneuploidy analysis of human blood cells in vivo by fluorescence in situ hybridization (FISH). Mech Ageing Dev 90: 145-156.
24. Catalan J, Surralles J, Falck GC, Autio K, Norppa H (2000) Segregation of sex chromosomes in human lymphocytes. Mutagenesis 15: 251-255.
25. Hook E, Hamerton J (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies - differences between studies - results by sex and by severity of phenotypic involvement. Hook E, Porter I, eds. Academic Press, Inc. pp 63-79.