Literature DB >> 3197732

Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia.

A Schneider1, U Mayer, E Gebhart, D Harms, J Gromball, U Glöckel, J D Beck.   

Abstract

A male infant is reported with congenital dyskeratosis and pancytopenia Zinsser-Engman-Cole. The bone marrow pathology showed similarities to Fanconi anaemia. Ophthalmological complications were vitreous haemorrhage, haemorrhagic cataracta complicata and glaucoma. Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide. These findings are contrasted with those of Fanconi anaemia.

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Year:  1988        PMID： 3197732     DOI： 10.1007/bf00441811

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  13 in total

1.  [ON FANCONI'S ANEMIA. ANALYSIS OF 129 CASES].

Authors:  D GMYREK; I SYLLM-RAPOPORT
Journal:  Z Kinderheilkd       Date:  1964-12-01

2.  Dyskeratosis congenita with pancytopenia. Another constitutional anemia.

Authors:  S Inoue; G Mekanik; M Mahallati; W W Zuelzer
Journal:  Am J Dis Child       Date:  1973-09

3.  Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia.

Authors:  J A Ortega; V L Swanson; B H Landing; G D Hammond
Journal:  Am J Dis Child       Date:  1972-11

4.  Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita.

Authors:  A Giannetti; S Seidenari
Journal:  Dermatologica       Date:  1980

5.  Dyskeratosis congenita: relationship to Fanconi's anemia.

Authors:  W Steier; G A Van Voolen; V J Selmanowitz
Journal:  Blood       Date:  1972-04       Impact factor: 22.113

6.  Sister chromatid exchange in dyskeratosis congenita lymphocytes.

Authors:  W Burgdorf; K Kurvink; J Cervenka
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

7.  Dyskeratosis congenita: two examples of this multisystem disorder.

Authors:  R Womer; J E Clark; P Wood; H Sabio; T E Kelly
Journal:  Pediatrics       Date:  1983-04       Impact factor: 7.124

8.  Dyskeratosis congenita: radiologic features.

Authors:  T E Kelly; C B Stelling
Journal:  Pediatr Radiol       Date:  1982

9.  X-linked dyskeratosis congenita with pancytopenia.

Authors:  A Gutman; A Frumkin; A Adam; N Bloch-Shtacher; L A Rozenszajn
Journal:  Arch Dermatol       Date:  1978-11

10.  Thrombocytopenia: first symptom in a patient with dyskeratosis congenita.

Authors:  K De Boeck; H Degreef; R Verwilghen; L Corbeel; M Casteels-Van Daele
Journal:  Pediatrics       Date:  1981-06       Impact factor: 7.124
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  3 in total

1.  Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.

Authors:  D M DeBauche; G S Pai; W S Stanley
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

2.  Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita: a case report.

Authors:  L Oehler; E Reiter; J Friedl; E Kabrna; O A Haas; A Rosenkranz; K Lechner; K Geissler
Journal:  Ann Hematol       Date:  1994-12       Impact factor: 3.673

Review 3.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738
  3 in total

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