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dc.contributor.authorKerr, B
dc.contributor.authorAshcroft, G S
dc.contributor.authorScott, David
dc.contributor.authorHoran, M A
dc.contributor.authorFerguson, M W
dc.contributor.authorDonnai, D
dc.date.accessioned2010-04-07T10:24:16Z
dc.date.available2010-04-07T10:24:16Z
dc.date.issued1996-11
dc.identifier.citationRothmund-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.en
dc.identifier.issn0022-2593
dc.identifier.pmid8950673
dc.identifier.doi10.1136/jmg.33.11.928
dc.identifier.urihttp://hdl.handle.net/10541/95841
dc.description.abstractRothmund-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.
dc.language.isoenen
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshChild, Preschool
dc.subject.meshChromosomes, Human
dc.subject.meshFemale
dc.subject.meshGrowth Disorders
dc.subject.meshHumans
dc.subject.meshInfant, Newborn
dc.subject.meshMale
dc.subject.meshMental Retardation
dc.subject.meshPregnancy
dc.subject.meshRadiation Tolerance
dc.subject.meshRothmund-Thomson Syndrome
dc.subject.meshSkin
dc.titleRothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Mary's Hospital, Manchester, UK.en
dc.identifier.journalJournal of Medical Geneticsen
html.description.abstractRothmund-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.


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