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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-.

Cover of Chromosomal Variation in Man

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

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Fanconi Anemia

  • Alter B P: Hydrocephalus in Fanconi anemia. AJMG 45:785, 1993. [PubMed: 8456865]
    Alter B P, Frissora C L, Halperin D S, Freedman M H, Chitkara U, Alvarez E, Lynch L, Adler-Brecher B, Auerbach A D: Fanconi''s anaemia and pregnancy. Brit. J. Haemat. 77:410-418, 1991. [PubMed: 2012768]
    Index Terms: Pregnancy ... in Fanconi anemia
  • Alter B P: Fanconi anemia in Blacks. AJMG 42:393, 1992. [PubMed: 1536187]
    Macdougall L G, Greeff M C, Rosendorff J, Bernstein R: Fanconi anemia in Black African children. AJMG 36:408-413, 1990. [PubMed: 2389796]
    Macdougall L G, Rosendorff J: Response to Dr. Alter. AJMG 42:394, 1992.
    MIM#: 227650
  • Auerbach A D, Adler B, Chaganti R S K: Prenatal and postnatal diagnosis and carrier detection of Fanconi Anemia by a cytogenetic method. Pediatrics 67:128-135, 1981. [PubMed: 7243421]
    Auerbach A D, Adler B, O''Reilly R J, Kirkpatrick D, Chaganti R S K: Effect of procarbazine and cyclophosphamide on chromosome breakage in Fanconi anemia cells: relevance to bone marrow transplantation. Cancer Genet. Cytogenet. 9:25-36, 1983. [PubMed: 6340822]
    Auerbach A D, Min Z, Ghosh R, Pergament E, Verlinsky Y, Nicolas H, Boue J: Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum. Genet. 73:86-88, 1986. [PubMed: 3458668]
    Auerbach A D, Weiner M A, Warburton D, Yeboa K A, Lu L, Broxmeyer H E: Acute myeloid leukemia as the first hematologic manifestation of Fanconi anemia. Am. J. Hemat. 12:289-300, 1982. [PubMed: 6952762]
    Auerbach A D, Wolman S R: Susceptibility of Fanconi''s anaemia fibroblasts to chromosome damage by carcinogens. Nature 261:494-496, 1976. [PubMed: 934283]
    FA cells treated with the difunctional alkylating agent diepoxybutane (0.1 micrograms/ml)(DEB Aldrich Chemical Co., Inc.) responded with a 175-fold increase in chromosome breakage.
  • Auerbach A D: Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp. Hematol. 21:731-733, 1993. [PubMed: 8500573]
    Verlander P C, Lin J D, Udono M U, Zhang Q, Gibson R A, Mathew C G, Auerbach A D: Mutation analysis of the Fanconi anemia gene FACC. AJHG 54:595-601, 1994. [PMC free article: PMC1918103] [PubMed: 8128956]
  • Bargman G J, Shahidi N T, Gilbert E F, Opitz J M: Studies of malformation of syndromes of man XLVII: Disappearance of spermatogonia in the Fanconi Anemia syndrome. Europ. J. Ped. 125:163-168, 1977. [PubMed: 267584]
    A 15 year old at autopsy was found to have very few spermatogonia (Sertoli cell only defect).
  • Berger R, Bussel A, Schenmetzler C, Reirron J: Segregation somatique et anemie de Fanconi. C. R. Acad. Sci. 281:297-300, 1975. [PubMed: 811408]
    Berger R, Bussel A, Scheumetzler C: Somatic segregation and Fanconi anemia. Clin. Genet. 11:409-415, 1977. [PubMed: 880740]
    Clonal variation arising from somatic segregation seems to have been found by the authors of this interesting report.
  • Buchwald M, Moustacchi E.: Is Fanconi anemia caused by a defect in the processing of DNA damage? Mut. Res. 408:75-90, 1998. [PubMed: 9739810]
    Strathdee C A, Gavish H, Shannon W R, Buchwald M: Cloning of cDNAs for Fanconi''s anaemia by functional complementation. Nature 356:763-767, 1992. [PubMed: 1574115]
    Index Terms: cDNA & Fanconi anemia
  • Cameron E S, Alleyne W, Charles W: Fanconi''s aplastic anaemia in two sisters in Trinidad and Tobago. W. I. Med. J. 38:118-119, 1989. [PubMed: 2763534]
    Patients are of East Indian origin, in whom anorexia was present.
    Index Terms: Anorexia
  • Cervenka J, Hirsch B A: "Cytogenetic differentiation of Fanconi Anemia, ""Idiopathic"" aplastic anemia, and Fanconi Anemia heterozygotes." AJMG 15:211-223, 1983. [PubMed: 6410915]
  • D''Andrea A D, Grompe M.: Molecular biology of Fanconi anemia: implications for diagnosis and therapy. Blood 90:1725-1736, 1997. [PubMed: 9292505]
  • de Chadarevian J P, Vekemans M J J, Bernstein M: Fanconi''s anemia, medulloblastoma, Wilms'' tumor, horseshoe kidney, and gonadal dysgenesis. Arch. Path. Lab. Med. 109:367-369, 1985. [PubMed: 2985019]
    An unusual combination of different tumors in an 18-month-old infant.
    Index Terms: Fanconi anemia,Gonadal dysgenesis,Kidney ... malformations,Wilms tumor
  • Desangles F: Antenatal diagnosis of Fanconi syndrome by nitrogen mustard induction of chromosome breakage in fibroblasts. Path. Biol. (Fr.) 39:99-104, 1991. [PubMed: 2017342]
  • Diatloff-Zito C, Papadopoulo D, Averbeck D, Moustacchi E: Abnormal response to DNA crosslinking agents of Fanconi anemia fibroblasts can be corrected by transfection with normal human DNA. PNAS 83:7034-7038, 1986. [PMC free article: PMC386647] [PubMed: 3092225]
  • Duckworth-Rysiecki G, Cornish K, Clarke C A, Buchwald M: Identification of two complementation groups in Fanconi anemia. Somat. Cell Mol. Genet. 11:35-41, 1985. [PubMed: 3919452]
    Duckworth-Rysiecki G, Hulten M A, Mann J, Taylor A M R: Clinical and cytogenetic diversity in Fanconi''s anaemia. J. Med. Genet. 21:197-203, 1984. [PMC free article: PMC1049266] [PubMed: 6431107]
    Joenje H, Oostra B A, Wijker M, di Summa F M, van Berkel C G M, Rooimans M A, Ebell W, van Weel M, Pronk J C, Buchwald M, Arwert F.: Evidence for at least eight Fanconi anemia genes. AJHG 61:940-944, 1997. [PMC free article: PMC1715980] [PubMed: 9382107]
  • Farrell S A, Paes B, Lewis M E S: Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. AJMG 50:98-99, 1994. [PubMed: 8160763]
    MIM#: 227650
    Index Terms: Baller-Gerold syndrome
  • Fujiwara Y, Tatsumi M, Sasaki M S: Cross-link repair in human cells and its possible defect in Fanconi''s Anemia cells. J. Mol. Biol. 113:635-649, 1977. [PubMed: 894713]
    It is concluded that Fanconi Anemia cells may have different levels of deficiency in half-excision repair of interstrand cross-links induced by mitomycin C, despite having normal mechanisms for repair of u.v.-induced pyrimidine dimers and monofunctional decarbamoyl mitomycin C monoadducts and vice versa in xeroderma pigmentosum cells.
    Index Terms: Xeroderma pigmentosum
  • Gastearena J, Giralt M, Orue M T, Oyarzabal F J, Perez-Equiza E, Uriz M J: Fanconi''s anemia. Clinical study of six cases. Am. J. Ped. Hemat./Oncol. 8:173-177, 1986. [PubMed: 3766907]
  • German J, Schonberg S, Caskie S, Warburton D, Falk C, Ray J H: A test for Fanconi''s anemia. Blood 69:1637-1641, 1987. [PubMed: 3107630]
    A test based on the hypersensitivity of FA cells to mitomycin C is described.
    MIM#: 227650
  • Giampietro P F, Auerbach A D, Elias E R, Gutman A, Zellers N J, Davis J G.: New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. AJMG 78:70-75, 1998. [PubMed: 9637428]
    Cases 1 ( J. L.); 2 (Fetus L.); 3 (Je.L.); and 4 (E.C.):
  • Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander P C, Shen S, Faure S, Weissenbach J, Altay C, Lander E S, Auerbach A D, Botstein D.: A locus for Fanconi anemia on 16q determined by homozygosity mapping. AJHG 59:377-384, 1996. [PMC free article: PMC1914713] [PubMed: 8755924]
    Linkage to marker D16S520 was found.
  • Same entry as in Bloom syndrome (Gibbons et al, 1995).
  • Hagerman D A, Williams G P: Some features of Fanconi''s anemia. NEJM 329:1168, 1993. [PubMed: 8377781]
    Three good color photographs of chromosome breakages, cafe au lait spot, and shortened thumb.
    Index Terms: Cafe-au-lait,Fanconi anemia,Short thumb
  • Hirsch-Kauffmann M, Schweiger M, Wagner E F, Sperling K: Deficiency of DNA ligase activity in Fanconi''s anemia. Hum. Genet. 45:25-32, 1978. [PubMed: 730179]
    A significant decrease in DNA ligase activity was observed in lymphocytes and fibroblasts of a patient with Fanconi''s anemia. This decrease is related to the observed DNA repair deficiency.
  • Howell R T: Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi''s anaemia by induced chromosome damage analysis. J. Med. Genet. 28:468-471, 1991. [PMC free article: PMC1016957] [PubMed: 1910092]
    Data are presented to show that SCE analysis can be used.
    Index Terms: SCE ... in FA
  • Huret J L, Tanzer J, Guilhot F, Frocrain-Herchkovitch C, Savage J R K: Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease. Cytogenet. Cell Genet. 48:224-227, 1988. [PubMed: 3248378]
    Patient B.R.
    del(5q).,Bone marrow:-6,+der(6),t(1;6)(q12;p25).,Bone marrow(2 years later):mos-6,+der(6),t(1;6)(q12;p25)/,-2,+der(2),t(1;2)(q12;q37).
    Patient at 21 years of age developed refractory anemia and a typical karyotype.
  • Joenje H, Arwert F, Kwee M L, Madan K, Hoehn H.: Confounding factors in the diagnosis of Fanconi anaemia. AJMG 79:403-404, 1998. [PubMed: 9779812]
    It is suggested that the frequency of chromosomal aberrations in FA lymphocyte cultures is positively related to oxygen tension and that the site primarily affected by the FA mutation is in the complex system of defense (that is, protection and repair) against the genetic toxicity of oxygen.
  • Kano Y, Fujiwara Y: Higher inductions of twin and single sister chromatid exchanges by cross-linking agents in Fanconi''s Anemia cells. Hum. Genet. 60:233-238, 1982. [PubMed: 6809593]
  • Kuffel D G, Lindor N M, Litzow M R, Zinmeister A R, Dewald G W.: Mitomycin C chromosome stress test to identify hypersensitivity to bifunctional alkylating agents in patients with Fanconi anemia or aplastic anemia. Mayo Clin. Proc. 72:579-580, 1997. [PubMed: 9179145]
    Index Terms: Mitomycin C
  • Kwee M L, van den Kleij J M, van Essen A J, Begeer J H, Joenje H, Arwert F, ten Kate L P.: An atypical case of Fanconi anemia in elderly sibs. AJMG 68:362-366, 1997. [PubMed: 9024573]
    The sibs were 56 and 50 years old.
    Index Terms: Twins ... pregnancy
  • Latt S A, Kaiser T N, Lojewski A, Dougherty C, Juergens L A, Brefach S, Sahar E, Gustashaw K, Schreck R R, Powers M, Lalande M: Cytogenetic and flow cytometric studies of cells from patients with Fanconi''s anemia. Cytogenet. Cell Genet. 33:133-138, 1982. [PubMed: 7116934]
    Latt S A, Stetten G, Juergens L A, Buchanan G R, Gerald P S: Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi''s anemia. PNAS 72:4066-4070, 1975. [PMC free article: PMC433139] [PubMed: 1060089]
    It is suggested that the chromosomal breakages may be due to defect in repair of DNA damage.
  • Ljung R, Holmberg L, Nilssou K O, Thilen A: Fanconi''s anaemia associated with hemophilia A. Clin. Genet. 16:364-368, 1979. [PubMed: 519907]
    Index Terms: Fanconi anemia,Hemophilia
  • Lo Ten Foe J R, Kwee M L, Rooimans M A, Oostra B A, Veerman A J P, van Weel M, Pauli R M, Shahidi N T, Dokal I, Roberts I, Altay C, Gluckman E, Gibson R A, Mathew C G, Arwert F, Joenje H.: Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Europ. J. Hum. Genet. 5:137-148, 1997. [PubMed: 9272737]
    Index Terms: Somatic mosaicism
  • Mann W R, Venkatraj V S, Allen R G, Liu Q, Olsen D A, Adler-Brecher B, Mao J I, Weiffenbach B, Sherman S L, Auerbach A D: Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q. Genomics 9:329-337, 1991. [PubMed: 2004784]
    34 families enrolled in the International Fanconi Anemia Registry (IFAR) were studied for genetic linkage.
    MIM#: 227650
  • Meme J S, Gripenberg U, Kahkonen M: Fanconi''s anaemia: chromosome breakage in a large African family. Hereditas 93:255-260, 1980. [PubMed: 7440242]
  • Murer-Orlando M, Llerena J C, Jr, Birjandi F, Gibson R A, Mathew C G: FACC gene mutations and early prenatal diagnosis of Fanconi''s anaemia. Lancet 342:686, 1993. [PubMed: 8103176]
    The FA complementation group was characterised: paternal C to T substituion at base 292 which changes a glutamine residue, and a maternal C to T substituion at base 1897 in exon 14 was observed.
  • Nordenson I, Bjorksten B, Lundh B: Prevention of chromosomal breakage in Fanconi''s Anemia by cocultivation with normal cells. Hum. Genet. 56:169-171, 1980. [PubMed: 7450773]
  • Nowell P C, Bergman G, Besa E, Wilmoth D, Emanuel B S: Progressive preleukemia with a chromosomally abnormal clone in a kindred with the Estren-Damshek variant of Fanconi''s anemia. Blood 64:1135-1138, 1984. [PubMed: 6207874]
    MIM#: 227650
  • Obe G, Ludcke J B P, Waldenmaier K, Sperling K: Premature chromosome condensation in a case of Fanconi''s anemia. Humangenetik 28:159-162, 1975. [PubMed: 1150270]
    Case O. Ma, seven-year-old boy, in this report.
    Evidence for the pcc phenomenon was found even in the first in vitro mitosis.
  • Poole S R, Smith A C M, Hays T, McGavran L, Auerbach A D: Monozygotic twin girls with congenital malformations resembling Fanconi anemia. AJMG 42:780-784, 1992. [PubMed: 1554014]
  • Poon P K, O''Brien R L, Parker J W: Defective DNA repair in Fanconi''s anaemia. Nature 250:223-225, 1974. [PubMed: 4851278]
  • Porfirio B, Ambroso G, Giannella G, Isacchi G, Dallapiccola B: Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. Hum. Genet. 83:49-51, 1989. [PubMed: 2767678]
    Porfirio B, Dallapiccola B, Mokini V, Alimena G, Gandini E: Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi''s anemia patients and heterozygotes. Hum. Genet. 63:117-120, 1983. [PubMed: 6840755]
    Porfirio B, Smeets D, Beckers L, Caporossi D, Tedeschi B, Vernole P, Joenje H, Nicoletti B, Dallapiccola B: Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-dichloro-platinum (II) in Fanconi anemia lymphocyte cultures. Hum. Genet. 86:256-260, 1991. [PubMed: 1997377]
    Six FA patients and six controls were studied.
    It was found that G-light and common fragile site bands of the aphidicolin type,were involved.
    Index Terms: Chromosome instability,Fragile site
  • Porteous M E M, Cross I, Burn J: VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? AJMG 43:1032-1034, 1992. [PubMed: 1415330]
    Patients T.K. and C.H.
    MIM#: 276950
    Index Terms: VACTERL
  • Rosendorff J, Bernstein R: Fanconi''s anemia-chromosome breakage studies in homozygotes and heterozygotes. Cancer Genet. Cytogenet. 33:175-183, 1988. [PubMed: 3133104]
  • Rossbach H C, Sutcliffe M J, Haag M M, Grana N H, Rossi A R, Barbosa J L.: Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. AJMG 61:65-67, 1996. [PubMed: 8741921]
    Index Terms: VACTERL,Baller-Gerold syndrome
  • Rubinstein W S, Wenger S L, Hoffman R M, Auerbach A D, Mulvihill J J.: Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis. AJMG 69:315-319, 1997. [PubMed: 9096763]
    Index Terms: Interstitial lung disease in FA
  • Joenge H, Patel K J.: The emerging genetic and molecular basis of Fanconi anaemia. Nature Reviews 2:446-457, 2001. [PubMed: 11389461]
    Saar K, Schindler D, Wegner R-D, Reis A, Wienker T F, Hoehn H, Joenje H, Sperling K, Digweed M.: Localisation of a Fanconi anaemia gene to chromosome 9p. Europ. J. Hum. Genet. 6:501-508, 1998. [PubMed: 9801875]
  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
  • Sasaki M S: Is Fanconi''s anaemia defective in a process essential to the repair of DNA cross links? Nature 257:501-503, 1975. [PubMed: 1178054]
    Sasaki M S, Tonomura A: A high susceptibility of Fanconi''s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res. 33:1829-1836, 1973. [PubMed: 4352739]
    There is a suggestion that FA cells are defective in a biological system which constitutes an essential step in the repair of DNA interstrand cross links.
  • Saul R A, Ettinger R S, Stevenson R E: Unusual hematological findings in Fanconi anemia. Proc. Greenwood Genet. Ctr. 2:55-57, 1983.
  • Schroeder T M: Genetically determined chromosome instability syndromes. Cytogenet. Cell Genet. 33:119-132, 1982. [PubMed: 6749441]
    Schroeder T M, Anschutz F, Knopp A: Spontane chromosomenaberrationen bei familiarer panmyelopathie. Humangenetik 1:194-196, 1964. [PubMed: 5869479]
    Schroeder T M, Pohler E, Hufnagl H D, Stahl-Mauge Ch: "Fanconi''s anemia: terminal leukemia and ""Forme fruste"" in one family." Clin. Genet. 16:260-268, 1979. [PubMed: 293233]
    Wegner R D, Henrichs I, Joenje H, Schroeder-Kurth T.: Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. Clin. Genet. 50:479-482, 1996. [PubMed: 9147877]
    First report of chromosome changes in this condition.
    Index Terms: Leukemia ... in Fanconi anemia
  • Sperling K, Wegner R D, Riehm H, Obe G: Frequency and distribution of sister-chromatid exchanges in a case of Fanconi''s anemia. Humangenetik 27:227-230, 1975. [PubMed: 50275]
    The average frequency of sister-chromatid exchanges was not significantly different from the controls.
  • Swift M R, Hirschhorn K: Fanconi''s anemia. Inherited susceptibility to chromosome breakage in various tissues. Ann. Int. Med. 65:496-503, 1966. [PubMed: 5911745]
  • Same entry as in Roberts Syndrome (Tomkins D J and Allingham-Hawkins D J, 1992).
  • Voss R, Kohn G, Shaham M, Benzur Z, Arnon J, Ornoy A, Yaffe H, Golbus M S, Auerbach A D: Prenatal diagnosis of Fanconi Anemia. Clin. Genet. 20:185-190, 1981. [PubMed: 7307316]
  • Wunder E, Burghardt U, Lang B, Hamilton L: Fanconi''s Anemia: Anomaly of enzyme passage through the nuclear membrane? Anomalous intracellular distribution of topoisomerase activity in placental extracts in a case of Fanconi''s anemia. Hum. Genet. 58:149-155, 1981. [PubMed: 6269989]
  • Yilmaz E, Alpsoy E, Luleci G, Bagci G, Yilmaz G G, Cetin L, Basaran E.: Bloom''s syndrome in a Turkish individual. Clin. Genet. 49:314-315, 1996. [PubMed: 8884082]
    Patient EM, 00081980.
    Index Terms: Turkish
  • Yoshida M C: Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi''s anemia by cell fusion with normal human fibroblasts. Hum. Genet. 55:223-226, 1980. [PubMed: 7450765]
    After euploid somatic cell hybridization with normal human fibroblasts, the high rate of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi''s anemia fibroblasts is fully corrected.
  • Yung J F: Diagnosis of Fanconi''s anemia using mitomycin C. Karyogram 14:27-28, 1988.
    Two cases were examined with this method and the breakage abnormalities were enhanced by 80-100%.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106129
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