Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia (AT) - Clinical and cytogenetic findings in 5 patients

Human Genetics

Volumn 30, Issue 2, 1975, Pages 135-141

  Hayashi, K ^a   Schmid, W ^a,b  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b Universitats Kinderklinik   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CYTOLOGY; DIAGNOSIS; DICENTRIC CHROMOSOME; HISTOLOGY;

ADOLESCENT; ADULT; ATAXIA TELANGIECTASIA; CASE REPORT; CHILD, PRESCHOOL; CHROMATIDS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, 13-15; CLONE CELLS; FEMALE; HUMAN; LYMPHOCYTES; MALE;

EID: 0016805170     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00291946     Document Type: Article

References (9)

1. Cytogenetic study of patients with ataxia-telangiectasia
2. A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes
3. Ataxia-telangiectasia: a report of two cases in siblings presenting a picture of progressive spinal muscular atrophy
4. Ataxia telangiectasia syndrome: Cytogenetic and cancer aspects
5. Ataxia-telangiectasia-clonal growth of translocation lymphocytes
6. Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome)
7. Cytogenetic findings in two brothers with ataxia-telangiectasia (Louis Bar's syndrome)
8. Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972