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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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Ataxia-Telangiectasia

  • Same entry as in Nijmegen syndrome (Shiloh, 1997).

  • Al Saadi A A, Palutke M, Krishna Kumar G: Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia. Hum. Genet. 55:23-29, 1980. [PubMed: 7450753]
  • Same entry as in 14q210 (Aurias et al, 1985).

  • Aurias A, Dutrillaux B, Buriot D, Lejeune J: High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia. Mut. Res. 69:369-374, 1980. [PubMed: 7360152]
    Aurias A, Dutrillaux B, Griscelli C.: Tandem translocation t(14;14) in isolated and clonal cells in Ataxia telangiectasia are different. Hum. Genet. 63:320-322, 1983. [PubMed: 6862436]
    The breakpoint in an AT patient was at 14q11.1-q11.2 in PHA-stimulated lymphocytes in an invading clone with a t(14;14).
  • Bochkov N P, Lopukhin Y M, Kuleshov N P, Kovalchuk L V: Cytogenetic study of patients with ataxia-telangiectasia. Humangenetik 24:115-128, 1974. [PubMed: 4430492]
  • Bridges B A, Harnden D G, Editors: Ataxia-telangiectasia. A cellular and molecular link between cancer, neuropathology, and immune deficiency. New York: John Wiley. 1-402, 1982.
  • Same entry as in Bloom Syndrome (Chaganti et al, 1974).

  • Cornforth M N, Bedford J S: On the nature of defect in cells from individuals with ataxia-telangiectasia. Science 227:1589-1591, [PubMed: 3975628]
  • Curry C J R, Tsai J, Hutchinson H T, Jaspers N G J, Wara D, Gatti R A: ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. AJHG 45:270-275, 1989. [PMC free article: PMC1683342] [PubMed: 2491181]
    Jaspers N G J, Gatti R A, Baan C, Linssen P C M L, Bootsma D: Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet. Cell Genet. 49:259-263, 1989. [PubMed: 3248383]
  • Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa L, Charmley P, Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor A M R, Shiloh Y, Lange K, Gatti R A: Localization of an Ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium. AJHG 49:1263-1279, 1991. [PMC free article: PMC1686455] [PubMed: 1746555]
  • Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti R A, Jorgensen T J, Shiloh Y, Bar-Shira A.: Genotype-phenotype relationships in Ataxia-telangiectasia and variants. AJHG 62:551-561, 1998. [PMC free article: PMC1376949] [PubMed: 9497252]
    Gilad et al concluded that certain "A-T variant" phenotypes represent ATM mutations, including some of those without telangiectasia.

    Kojis T L, Gatti R A, Sparkes R S: The cytogenetics of Ataxia telangiectasia. Cancer Genet. Cytogenet. 56:143-156, 1991. [PubMed: 1756458]
    Telatar M, Teraoka S, Wang Z, Chun H H, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale A L, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti R A.: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. AJHG 62:86-97, 1998. [PMC free article: PMC1376800] [PubMed: 9443866]
    MIM#: 208900
  • Hayashi K, Schmid W: Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia (AT). Clinical and cytogenetic findings in five patients. Humangenetik 30:135-141, 1975. [PubMed: 1193600]
  • Hecht F, Koler R D, Rigas D A, Dahnke G S, Case M P, Tisdale V, Miller R W: Leukaemia and lymphocytes in ataxia-telangiectasia. Lancet 2:1193, 1966.
    Hecht F, McCaw B K, Koler R D: Ataxia-telangiectasia-clonal growth of translocation lymphocytes. NEJM 289:286-291, 1973. [PubMed: 4515676]
    First report in which chromosomal abnormalities in AT were described.
  • Hernandez D, McConville C M, Stacey M, Woods C G, Brown M M, Shutt P, Rysiecki G, Taylor A M R: A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J. Med. Genet. 30:135-140, 1993. [PMC free article: PMC1016271] [PubMed: 8445618]
  • Hojo E T S, van Diemen P C M, Darroudi F, Natarajan A T.: Spontaneous chromosomal aberrations in Fanconi anaemia, ataxia telangiectasia fibroblast and Bloom''s syndrome lymphoblastoid cell lines as detected by conventional cytogenetic analysis and fluorescence in situ hybridisation (FISH) technique. Mut. Res. 334:59-69, 1995. [PubMed: 7799980]
    Natarajan A T, Meijers M, van Zeeland A A, Simons J W I M: Attempts to detect ataxia telangiectasia (AT) heterozygotes by cytogenetical techniques. Cytogenet. Cell Genet. 33:145-151, 1982. [PubMed: 7116937]
    Natarajan A T, Meyers M: Chromosomal radiosensitivity of Ataxia-telangiectasia cells at different cell cycle stages. Hum. Genet. 52:127-132, 1979. [PubMed: 527973]
    Natarajan A T, Verdegaal-Immerzeel E A M, Ashwood-Smith M J, Poulton G A: Chromosomal damage induced by furocoumarins and UVA in hamster and human cells including cells from patients with ataxia telangiectasia and xeroderma pigmentosum. Mut. Res. 84:113-124, 1981. [PubMed: 7199114]
    X-ray induced chromosomal aberrations in peripheral blood lymphocytes as well as in skin fibroblasts from Ataxia-telangiectasia patients, and from normal individuals were studied. At all stages of cell cycles-namely G0, G1, and G2, more aberrations were induced in AT cells than in normal cells. In addition, AT cells were sensitive to induction of chromosomal aberration of tritium beta rays from incorporated radioactive thymidine.,AT and XP cells responded with higher frequencies of sister-chromatid exchanges as well as chromosomal aberrations than normal human cells to 5MOP, 8MOP and angelicin.
    Index Terms: Xeroderma pigmentosum
  • Huang P C, Sheridan R B: Genetic and biochemical studies with ataxia telangiectasia. Hum. Genet. 59:1-9, 1981. [PubMed: 10819014]
  • Jaspers N G J, Bootsma D: Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. PNAS 79:2641-2644, 1982. [PMC free article: PMC346256] [PubMed: 6953420]
  • Johnson J P, Gatti R A, Sears T S, White R L: Inverted duplication of Jh associated with chromosome 14 translocation and T-cell leukemia in Ataxia-telangiectsia. AJHG 39:787-796, 1986. [PMC free article: PMC1684115] [PubMed: 3026175]
    Two patients were studied (MP and PH). One of the patients was found to have an inverted duplication of 26 kilobases (kb) of the Cu region. The point is within Jh.
    t(14;14)(q12;q32).
    Index Terms: Leukemia
  • Littlefield L G, Colyer S P, Joiner E E, DuFrain R J, Frome E, Cohen M M: Chromosomal radiation sensitivity in ataxia telangiectasia long-term lymphoblastoid cell lines. Cytogenet. Cell Genet. 31:203-213, 1981. [PubMed: 6978798]
  • Llerena J, Jr, Murer-Orlando M, McGuire M, Zahed L, Sheridan R J, Berry A C, Bobrow M: Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome. J. Med. Genet. 26:174-178, 1989. [PMC free article: PMC1015579] [PubMed: 2468772]
    Levels of spontaneous and induced (gamma radiation and bleomycin) chromosome breakage were established. In CVS gamma radiation is probably the easiest and most reliable way of discriminating between unaffected fetuses and those with AT.
    MIM#: 208900
  • McCaw B K, Hecht F, Harnden D G, Teplitz R L: Somatic rearrangement of chromosome 14 in human lymphocytes. PNAS 72:2071-2075, 1975. [PMC free article: PMC432696] [PubMed: 1056013]
    14q region, perhaps 12 region, was found to be involved in rearrangements in clones of lymphocytes in eight patients with ataxia telangiectasia.
  • McConville C M, Stankovic T, Byrd P J, McGuire G M, Yao Q Y, Lennox G G, Taylor A M R.: Mutations associated with variant phenotypes in ataxia-telangiectasia. AJHG 59:320-330, 1996. [PMC free article: PMC1914715] [PubMed: 8755918]
    Metcalfe J A, Parkhill J, Campbell L, Stacey M, Biggs P, Byrd P J, Taylor A M R.: Accelerated telomere shortening in ataxia telangiectasia. Nature Genet. 13:350-353, 1996. [PubMed: 8673136]
  • McKinnon P J: Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect. Hum. Genet. 75:197-208, 1987. [PubMed: 3549535]
  • Oxford J M, Harnden D G, Parrington J M, Delhanty J D A: Specific chromosome aberrations in ataxia telangiectasia. J. Med. Genet. 12:251-262, 1975. [PMC free article: PMC1013285] [PubMed: 1177276]
    Seven cases of AT were investigated in detail. It appears that the band 14q12 may be a highly specific exchange point.
  • Painter R B: Structural changes in chromatin as the basis for radiosensitivity in ataxia telangiectasia. Cytogenet. Cell Genet. 33:139-144, 1982. [PubMed: 7116935]
  • Pandita T K, Pathak S, Geard C R. : Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells. Cytogenet. Cell Genet. 71: 86-93, 1995. [PubMed: 7606935]
    Index Terms: Telomer
  • Paterson M C, Smith B P, Lohman P H M, Anderson A K, Fishman L: Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts. Nature 260:444-447, 1976. [PubMed: 1256588]
    The authors suggest that AT cells lack the full complement of functional gamma endonuclease and thus fail to initiate excision repair of gamma-induced base defects normally.
  • Rosin M P, Ochs H D: In vivo chromosomal instability in ataxia-telangiectasia homozygotes and heterozygotes. Hum. Genet. 74:335-340, 1986. [PubMed: 3793095]
  • Rudolph N S, Latt S A: Flow cytometric analysis of x-ray sensitivity in ataxia telangiectasia. Mut. Res. 211:31-41, 1989. [PubMed: 2922001]
    Rudolph N S, Nagasawa H, Little J B, Latt S A: Identification of ataxia telangiectasia heterozygotes by flow cytometric analysis of X-ray damage. Mut. Res. 211:19-29, 1989. [PubMed: 2922000]
  • Same entry as in 11q230 (Sanal et al, 1990).

  • Scheres J M J C, Hustinx T W J, Weemaes C M R: Chromosome 7 in ataxia telangietasia. J. Ped. 97:440-441, 1980. [PubMed: 7411307]
    inv 7(p13q32) was found in 2 brothers and a third patient.
  • Schroeder T M: Genetically determined chromosome instability syndromes. Cytogenet. Cell Genet. 33:119-132, 1982. [PubMed: 6749441]
  • Schwartz S, Flannery D B, Cohen M M: Tests appropriate for the prenatal diagnosis of ataxia telangiectasia. Prenat. Diag. 5:9-14, 1985. [PubMed: 2579376]
  • Shaham M, Becker Y, Cohen M M: A diffusible clastogenic factor in ataxia telangiectasia. Cytogenet. Cell Genet. 27:155-161, 1980. [PubMed: 6967388]
    Evidence is presented to suggest the presence of a clastogenic factor in the plasma of AT patients which may also be produced by AT skin fibroblasts in culture.
  • Shamam M, Voss R, Becker Y, Yarkoni S, Ornoy A, Kohn G: Prenatal diagnosis of ataxia telangiectasia. J. Ped. 100:134-137, 1982. [PubMed: 7057301]
    Prenatal diagnosis was made by the presence of the clastogenic factor in the amniotic fluid, as well as on the spontaneous chromosomal breakage and a chromosomal translocation involving chromosome 14 in the cultured amniotic fluid cells.
  • Shiloh Y, Parshad R, Sanford K K, Jones G M: Carrier detection in Ataxia-telangiectasia. Lancet i:689-690, 1986. [PubMed: 2869384]
  • Swift M R, Morrell D, Cromartie E, Chamberlin A R, Skolnick M H, Bishop D T: The incidence and gene frequency of Ataxia-telangiectasia in the United States. AJHG 39:573-583, 1986. [PMC free article: PMC1684065] [PubMed: 3788973]
  • Weinstein S, Scottolini A G, Loo S Y T, Caldwell P C, Bhagavan N V: Ataxia telangiectasia with hepatocellular carcinoma in a 15-year-old girl and studies of her kindred. Arch. Path. Lab. Med. 109:1000-1004, 1985. [PubMed: 2996458]
  • Willems P J, Van Roy B C, Kleijer W J, Van der Kraan M, Martin J J: Atypical clinical presentation of ataxia telangiectasia. AJMG 45:777-782, 1993. [PubMed: 8456862]
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106863
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