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Mutat Res. 1988 Jul;208(3-4):159-61.

Chromosome and blood marker studies in families of patients affected by xeroderma pigmentosum and trichothiodystrophy.

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Istituto di Genetica Biochimica ed Evoluzionistica del C.N.R., Pavia, Italy.


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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