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    Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

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    Authors
    Kerr, B
    Ashcroft, G S
    Scott, David
    Horan, M A
    Ferguson, M W
    Donnai, D
    Affiliation
    Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
    Issue Date
    1996-11
    
    Metadata
    Show full item record
    Abstract
    Rothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of Rothmund-Thomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity of lymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes.
    Citation
    Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. 1996, 33 (11):928-34 J. Med. Genet.
    Journal
    Journal of Medical Genetics
    URI
    http://hdl.handle.net/10541/95841
    DOI
    10.1136/jmg.33.11.928
    PubMed ID
    8950673
    Type
    Article
    Language
    en
    ISSN
    0022-2593
    ae974a485f413a2113503eed53cd6c53
    10.1136/jmg.33.11.928
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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