Ataxia telangiectasia: Family management.

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dc.contributor.authorSeshachalam, Arun
dc.contributor.authorCyriac, Sanju
dc.contributor.authorReddy, Neelesh
dc.contributor.authorGnana, Sagar T
dc.date.accessioned2012-06-08T08:32:39Z
dc.date.available2012-06-08T08:32:39Z
dc.date.issued2010-01
dc.description.abstractAtaxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.en_US
dc.identifier.citationSeshachalam Arun, Cyriac Sanju, Reddy Neelesh, Gnana Sagar T. Ataxia telangiectasia: Family management. Indian Journal of Human Genetics. 2010 Jan; 16(1): 39-42.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138896
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927794/en_US
dc.subjectAtaxia Telangiectasiaen_US
dc.subjectfamily managementen_US
dc.subjectmalignancyen_US
dc.subject.meshAtaxia Telangiectasia --diagnosis
dc.subject.meshAtaxia Telangiectasia --genetics
dc.subject.meshAtaxia Telangiectasia --therapy
dc.subject.meshCare Givers
dc.subject.meshChild
dc.subject.meshConsanguinity
dc.subject.meshFemale
dc.subject.meshGenetic Counseling --methods
dc.subject.meshHumans
dc.subject.meshLymphoma, Large-Cell, Anaplastic --diagnosis
dc.subject.meshLymphoma, Large-Cell, Anaplastic --genetics
dc.subject.meshLymphoma, Large-Cell, Anaplastic --therapy
dc.titleAtaxia telangiectasia: Family management.en_US
dc.typeArticleen_US
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