Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child
- Abteilung Klinische Genetik der Universitaet, Wuerzburg (West Germany)
The authors report on a microcephalic, growth-retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiectasia (AT) or a related disorder. Supportive evidence was radioresistant DNA synthesis in fibroblasts and radiation hypersensitivity of short-term lymphocyte cultures. Follow-up for nearly 4 years showed largely normal development, and no signs of telangiectasia, ataxia, or immunodeficiency. Serum AFP levels turned from elevated at age 5 months to normal at age 2 years. They propose that their patient belongs to the expanding category of AT-related genetic disorders, probably to the Nijmegen breakage syndrome.
- OSTI ID:
- 5075233
- Journal Information:
- American Journal of Medical Genetics; (United States), Vol. 40:1; ISSN 0148-7299
- Country of Publication:
- United States
- Language:
- English
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