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

Human genetics ·Vol. 31 ·No. 1 ·1976-01-28 ·Pages 47-52

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

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.

MeSH Terms

Abnormalities, Multiple/genetics Child Chromatids Chromosome Aberrations Crossing Over, Genetic Cytogenetics Facial Dermatoses/genetics Female Fibroblasts/cytology Humans Lymphocytes/cytology Mitosis Polyploidy Telangiectasis/genetics

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Sperling K

Goll U

Kunze J

Lüdtke E K

Tolksdorf M

Obe G

References (10)

10 references, click to expand

Premature chromosome condensation in a case of Fanconi's anemia.
Humangenetik. 1975 Jun 19;28(2):159-62 PMID: 1150270
Giemsa technique for the detection of sister chromatid exchanges.
Chromosoma. 1974;48(4):355-60 PMID: 4141299
Localization of sister chromatid exchanges in human chromosomes.
Science. 1974 Jul 5;185(4145):74-6 PMID: 4134970
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder.
Chromosoma. 1974;48(4):361-6 PMID: 4448109
Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.
Humangenetik. 1974;25(4):299-306 PMID: 4464237
A simple technique for demonstrating centromeric heterochromatin.
Exp Cell Res. 1972 Nov;75(1):304-6 PMID: 4117921
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.
Am J Hum Genet. 1969 Mar;21(2):196-227 PMID: 5770175
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.
Proc Natl Acad Sci U S A. 1974 Nov;71(11):4508-12 PMID: 4140506
Spontaneous chromosomal instability.
Humangenetik. 1972;16(1):151-7 PMID: 4647439
Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia.
Humangenetik. 1975;27(3):227-30 PMID: 50275

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00270398

Published

1976-01-28

Pages

47-52

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00270398 View journal details

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

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