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Literature DB >> 1248822

Cytogenetic investigations in a new case of Bloom's syndrome.

K Sperling, U Goll, J Kunze, E K Lüdtke, M Tolksdorf, G Obe.

Abstract

Cytogenetic studies of an 8-year-old caucasian girl with typical but mild manifestation of Bloom's syndrome showed a characteristic increase of homologous chromatid translocations and prematurely condensed chromosomes. The average frequency of sister chromatid exchanges (SCE) in lymphocytes with 133 was much higher than in skin fibroblasts with 49. The inter- and intrachromosomal distributions of SCE in lymphocytes were analyzed.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 1248822 DOI： 10.1007/bf00270398

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

10 in total

1. Premature chromosome condensation in a case of Fanconi's anemia.

Authors: G Obe; J B Lüdcke; K Waldenmaier; K Sperling
Journal: Humangenetik Date: 1975-06-19

2. Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder.

Authors: J German; L P Crippa; D Bloom
Journal: Chromosoma Date: 1974 Impact factor: 4.316

3. Localization of sister chromatid exchanges in human chromosomes.

Authors: S A Latt
Journal: Science Date: 1974-07-05 Impact factor: 47.728

4. A simple technique for demonstrating centromeric heterochromatin.

Authors: A T Sumner
Journal: Exp Cell Res Date: 1972-11 Impact factor: 3.905

5. Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.

Authors: T M Schroeder; J German
Journal: Humangenetik Date: 1974

6. Spontaneous chromosomal instability.

Authors: E Passarge
Journal: Humangenetik Date: 1972

7. Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.

Authors: J German
Journal: Am J Hum Genet Date: 1969-03 Impact factor: 11.025

8. Giemsa technique for the detection of sister chromatid exchanges.

Authors: J R Korenberg; E F Freedlender
Journal: Chromosoma Date: 1974 Impact factor: 4.316

9. A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.

Authors: R S Chaganti; S Schonberg; J German
Journal: Proc Natl Acad Sci U S A Date: 1974-11 Impact factor: 11.205

10. Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia.

Authors: K Sperling; R D Wegner; H Riehm; G Obe
Journal: Humangenetik Date: 1975

10 in total

13 in total

Review 7. Dna repair: pathways and defects.

Authors: C R Bartram
Journal: Eur J Pediatr Date: 1980-12 Impact factor: 3.183

Cytogenetic investigations in a new case of Bloom's syndrome.

1. Premature chromosome condensation in a case of Fanconi's anemia.

2. Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder.

3. Localization of sister chromatid exchanges in human chromosomes.

4. A simple technique for demonstrating centromeric heterochromatin.

5. Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.

6. Spontaneous chromosomal instability.

7. Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.

8. Giemsa technique for the detection of sister chromatid exchanges.

9. A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.

10. Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia.

1. Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes.

2. Sister chromatid exchange in lymphocytes from patients with acute lymphoblastic leukemia.

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

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

5. Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells.

6. Spontaneous cell fusion and PCC formation in Bloom's syndrome.

Review 7. Dna repair: pathways and defects.

8. Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.

9. The behavior of allocyclic chromosomes in Bloom's syndrome.

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