Literature DB >> 3458668

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.

A D Auerbach, Z Min, R Ghosh, E Pergament, Y Verlinsky, H Nicolas, J Boué.   

Abstract

Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal breakage and breakage induced by diepoxybutane (DEB) were analyzed. Increased breakage was used as a marker for the syndrome. Our results were unambiguous and provide a reliable method for prenatal detection of FA in the first trimester of pregnancy.

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 3458668     DOI： 10.1007/BF00292671

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens.

Authors:  A D Auerbach; S R Wolman
Journal:  Nature       Date:  1976-06-10       Impact factor: 49.962

2.  A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents.

Authors:  M S Sasaki; A Tonomura
Journal:  Cancer Res       Date:  1973-08       Impact factor: 12.701

3.  First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.

Authors:  J Boué; I Oberle; R Heilig; J L Mandel; A Moser; H Moser; J W Larsen; Y Dumez; A Boué
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  First-trimester fetal diagnosis for haemoglobinopathies: three cases.

Authors:  J M Old; R H Ward; M Petrou; F Karagözlu; B Modell; D J Weatherall
Journal:  Lancet       Date:  1982-12-25       Impact factor: 79.321

5.  Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

Authors:  M Goossens; Y Dumez; L Kaplan; M Lupker; C Chabret; R Henrion; J Rosa
Journal:  N Engl J Med       Date:  1983-10-06       Impact factor: 91.245

6.  Fanconi anemia: prenatal diagnosis in 30 fetuses at risk.

Authors:  A D Auerbach; M Sagi; B Adler
Journal:  Pediatrics       Date:  1985-11       Impact factor: 7.124

7.  Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.

Authors:  G Simoni; B Brambati; C Danesino; F Rossella; G L Terzoli; M Ferrari; M Fraccaro
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method.

Authors:  A D Auerbach; B Adler; R S Chaganti
Journal:  Pediatrics       Date:  1981-01       Impact factor: 7.124

9.  Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects.

Authors:  G Fanconi
Journal:  Semin Hematol       Date:  1967-07       Impact factor: 3.851

10.  First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases.

Authors:  B Brambati; G Simoni; C Danesino; A Oldrini; E Ferrazzi; L Romitti; G Terzoli; F Rossella; M Ferrari; M Fraccaro
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318
  10 in total
  10 in total

1.  Segregation analysis with uncertain ascertainment: application to Fanconi anemia.

Authors:  A Rogatko; A D Auerbach
Journal:  Am J Hum Genet       Date:  1988-06       Impact factor: 11.025

2.  Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.

Authors:  R T Howell
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  Diagnosis of Fanconi anemia by diepoxybutane analysis.

Authors:  Arleen D Auerbach
Journal:  Curr Protoc Hum Genet       Date:  2015-04-01

4.  Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.

Authors:  J Llerena; M Murer-Orlando; M McGuire; L Zahed; R J Sheridan; A C Berry; M Bobrow
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

5.  Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.

Authors:  Viktoria N Evdokimova; Reagan K McLoughlin; Sharon L Wenger; Stephen G Grant
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

6.  Body proportions in Fanconi anemia heterozygotes.

Authors:  S Mohan; P Lakshminarayanan; P Sowmya; M Venkatadesikalu; V Pushpa
Journal:  Indian J Pediatr       Date:  2000-11       Impact factor: 1.967

Review 7.  New molecular diagnostic tests for two congenital forms of anemia.

Authors:  A D Auerbach; P C Verlander; K E Brown; J M Liu
Journal:  J Clin Lab Anal       Date:  1997       Impact factor: 2.352

Review 8.  Fanconi anemia and its diagnosis.

Authors:  Arleen D Auerbach
Journal:  Mutat Res       Date:  2009-02-28       Impact factor: 2.433

9.  Mutation analysis of the Fanconi anemia gene FACC.

Authors:  P C Verlander; J D Lin; M U Udono; Q Zhang; R A Gibson; C G Mathew; A D Auerbach
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

Review 10.  A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations.

Authors:  Preksha Sharma; Neha Sharma; Dhruva Sharma
Journal:  Glob Med Genet       Date:  2022-09-05
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.