Literature DB >> 891017

Bloom's syndrome in two Dutch families.

T W Hustinx, B G Ter Haar, J M Scheres, F J Rutten, C M Weemaes, R L Hoppe, A H Janssen.   

Abstract

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun-sensitivity of the skin; and decreased immuno-competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome. The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister-chromatid exchanges per cell.

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Year:  1977        PMID: 891017     DOI: 10.1111/j.1399-0004.1977.tb00907.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  9 in total

Review 1.  Genetics of neoplasia--impact of ecogenetics on oncogenesis. A review.

Authors:  D T Purtilo; L Paquin; T Gindhart
Journal:  Am J Pathol       Date:  1978-06       Impact factor: 4.307

2.  In vivo chromosomal instability in ataxia-telangiectasia homozygotes and heterozygotes.

Authors:  M P Rosin; H D Ochs
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

3.  No increased chromosome breakage in three Bloom's syndrome heterozygotes.

Authors:  E M Kuhn; E Therman
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

4.  Sister chromatid exchange and cell cycle in fibroblasts of Bloom's syndrome.

Authors:  S V Brat
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

5.  A high incidence of mitotic chiasmata in endoreduplicated Bloom's syndrome cells.

Authors:  E M Kuhn
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells.

Authors:  M P Rosin; J German
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Karyotype instability with multiple 7/14 and 7/7 rearrangements.

Authors:  T W Hustinx; J M Scheres; C M Weemaes; B G ter Haar; A H Janssen
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

8.  Cytogenetic toxicity of D2O in human lymphocyte cultures. Increased sensitivity in Fanconi's anemia.

Authors:  H Joenje; A B Oostra; A H Wanamarta
Journal:  Experientia       Date:  1983-07-15

9.  Transition of phenotypic dimorphism with regard to spontaneous sister chromatid exchange in Epstein-Barr virus-transformed Bloom's syndrome lymphoblastoid cell lines.

Authors:  K Tatsumi; T Kurihara; I Arita; J Tatsumi-Miyajima
Journal:  Jpn J Cancer Res       Date:  1992-07
  9 in total

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