Juvenile ankylosing spondylitis in Turner syndrome.

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dc.contributor.authorSANDHYA, P
dc.contributor.authorDANDA, DEBASHISH
dc.contributor.authorDANDA, SUMITA
dc.contributor.authorSRIVASTAVA, VIVI M
dc.date.accessioned2015-02-26T08:23:27Z
dc.date.available2015-02-26T08:23:27Z
dc.date.issued2013-11
dc.description.abstractJuvenile ankylosing spondylitis (JAS) is a chronic autoimmune disorder which causes considerable morbidity when left untreated; it occurs predominantly in men. We describe an Asian Indian woman who had JAS with phenotypic features of Turner syndrome (TS) and was found to be a mosaic for 45, X/46, X, psu idic (X) (p11) by karyotyping and fluorescence in situ hybridization (FISH) studies of peripheral blood. The absence of Y chromosome material was confirmed by FISH. Haplo-insufficiency of the X chromosome can predispose to autoimmunity. To the best of our knowledge, this is the first report of JAS in association with mosaic Turner syndrome. This case highlights the possible effects of gene dosage in development of an autoimmune disease.en_US
dc.identifier.citationSANDHYA P, DANDA DEBASHISH, DANDA SUMITA, SRIVASTAVA VIVI M. Juvenile ankylosing spondylitis in Turner syndrome. National Medical Journal of India. 2013 Nov-Dec ; 26 (6): 338-339.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156400
dc.language.isoenen_US
dc.source.urihttps://nmji.in/archives/Volume-26/Issue-6/04-26-6-CCR.pdfen_US
dc.subject.meshFemale
dc.subject.meshGene Dosage
dc.subject.meshHumans
dc.subject.meshKaryotyping
dc.subject.meshMosaicism
dc.subject.meshPhenotype
dc.subject.meshSpondylitis, Ankylosing --complications
dc.subject.meshSpondylitis, Ankylosing --genetics
dc.subject.meshTurner Syndrome --complications
dc.subject.meshTurner Syndrome --genetics
dc.subject.meshYoung Adult
dc.titleJuvenile ankylosing spondylitis in Turner syndrome.en_US
dc.typeArticleen_US
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