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An intracranial carcinoma in a Mexican woman with Bloom syndrome.
- Source :
-
Annales de genetique [Ann Genet] 2000 Jan-Mar; Vol. 43 (1), pp. 55-7. - Publication Year :
- 2000
-
Abstract
- An intracranial cell squamous carcinoma was found in a 27-year-old Mexican woman with Bloom syndrome (BS), including growth retardation, sun-sensitive telangiectatic erythema, defective immunity, and increased number of mitotic chiasmata and sister chromatid exchanges. The tumour, probably originating from the inner or middle ear epithelium, was resected but the patient died a few days after surgery. There was no parental consanguinity nor Jewish or European ancestry for at least five generations; in fact, her parents were mostly indigenous people. This case represents an undescribed intracranial malignancy in BS and the third Mexican BS patient reported. The typical BS phenotype in a woman with pigmented skin challenges the contention that pigmented females are less severely affected.
- Subjects :
- Adult
Brain Neoplasms diagnosis
Brain Neoplasms pathology
Brain Neoplasms surgery
Carcinoma, Squamous Cell diagnosis
Carcinoma, Squamous Cell pathology
Carcinoma, Squamous Cell surgery
Ear Neoplasms complications
Ear Neoplasms diagnosis
Ear Neoplasms pathology
Ear Neoplasms surgery
Fatal Outcome
Female
Humans
Magnetic Resonance Imaging
Mexico
Bloom Syndrome
Brain Neoplasms complications
Carcinoma, Squamous Cell complications
Subjects
Details
- Language :
- English
- ISSN :
- 0003-3995
- Volume :
- 43
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Annales de genetique
- Publication Type :
- Academic Journal
- Accession number :
- 10818223
- Full Text :
- https://doi.org/10.1016/s0003-3995(00)00019-8