Chromosome and blood marker studies in families of patients affected by xeroderma pigmentosum and trichothiodystrophy
| Autor: | R. Scozzari, Fiorella Nuzzo, S. Marinoni, A. Casati, M. Rocchi, Miria Stefanini, P. Lagomarsini, R. Colognola |
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| Rok vydání: | 1988 |
| Předmět: |
Genetics
Xeroderma Pigmentosum medicine.medical_specialty Xeroderma pigmentosum Cytogenetics Trichothiodystrophy Chromosome Mapping Ichthyosis Chromosome Karyotype General Medicine Chromosomal rearrangement Biology medicine.disease Skin Diseases Genetic marker Intellectual Disability Blood Group Antigens medicine Humans Hair Diseases Pigmentation disorder |
| Zdroj: | Mutation Research Letters. 208:159-161 |
| ISSN: | 0165-7992 |
| Popis: | Chromosome and blood marker studies were performed in the families of 4 patients in which the association of 2 rare recessive Mendelian disorders, xeroderma pigmentosum (XP-D) and trichothiodystrophy (TTD), was present. Blood genotypes did not indicate any linkage with the pathologic condition, nor any segregation anomaly. Cytogenetic analysis using high-resolution banding techniques showed a normal karyotype both in the heterozygous and in the homozygous individuals. These findings lead us to exclude a cytologically detectable chromosome rearrangement, such as a microdeletion, as a possible cause of the association of XP-D and TTD in our patients. |
| Databáze: | OpenAIRE |
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