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

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.
AuthorsF Nuzzo, M Stefanini, M Rocchi, A Casati, R Colognola, P Lagomarsini, S Marinoni, R Scozzari
JournalMutation research (Mutat Res) Vol. 208 Issue 3-4 Pg. 159-61 (Jul 1988) ISSN: 0027-5107 [Print] Netherlands
PMID3398868 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Blood Group Antigens
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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