Abstract |
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.
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Authors | F Nuzzo, M Stefanini, M Rocchi, A Casati, R Colognola, P Lagomarsini, S Marinoni, R Scozzari |
Journal | Mutation research
(Mutat Res)
Vol. 208
Issue 3-4
Pg. 159-61
(Jul 1988)
ISSN: 0027-5107 [Print] Netherlands |
PMID | 3398868
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Blood Group Antigens
(genetics)
- Chromosome Mapping
- Hair Diseases
(genetics)
- Humans
- Ichthyosis
(blood, genetics)
- Intellectual Disability
(genetics)
- Skin Diseases
(blood, genetics)
- Xeroderma Pigmentosum
(blood, genetics)
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