Psychological studies in huntingtons dis
➤ Gửi thông báo lỗi ⚠️ Báo cáo tài liệu vi phạmNội dung chi tiết: Psychological studies in huntingtons dis
Psychological studies in huntingtons dis
Downloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis c dystrophy: genetic counselling approachesSiv Fokstucn, Jenny Myring, Christine Evans, Peter s HarperJ Mei Crenc: 200138:846 850Institute of Medic 111 Genetics, University ofWales College ofMedicine, Heath Park, Cardiff, CI-4 4X.N, UK s Fokuucn*JMjnnt c Evans PS Harperc axTopoodenue to: Ptnfewc Har Psychological studies in huntingtons dis per, hu|X3pxii uudiirac.uk•Present address: Dmsion of Mcd>úd Gcnetlix Centre .Mcd».*ic UnKvnuUoc. I Rue Mkbd-Secvet, 1211 Geneva 4, Sntueriuxl, MV JtiPsychological studies in huntingtons dis
kstucniihluẹe.ihEditor—We report the genetic counselling approaches used in a scries of 72 presympto-matic genetic tests for myotonic dystrophy undertDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis is for further, more systematic research.Genetic counselling in myotonic dystrophy has always been difficult and complex, owing to the extreme variability of the disorder, in both severity and age at onset, with anticipation between generations and influence of the sex of the affected parent.Ihc ide Psychological studies in huntingtons dis ntification of a CTG repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase gene on chromosome 19‘ as the primaryPsychological studies in huntingtons dis
molecular defect has transformed our understanding of the genetic aspects of this disorder and provides the basis for an accurate and specific diagnoDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis ed degree of prognosis to be given to those found to have the mutation, particularly for very large or minimal gene expansions. Subjects carrying a minimal expansion (less than 100 repeats) usually show few or no muscle symptoms,2 but may develop cataract in later life; they conuibute to a pool of m Psychological studies in huntingtons dis utation carriers who may transmit clinically significant disease to their offspring as a result of anticipation.Presymptomatic genetic testing for latPsychological studies in huntingtons dis
e onset dominantly inherited disorders first became possible for Huntington's disease (HD),’ for which extensive experience has resulted in widely accDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis t.' With appropriate adaptation, this has become a model for other late onset genetic disorders of the nervousTibìe I PKiympVMMÚc lejiing for myoumic dyarophy: prinápM indicaiiomãtaứìùmTmo!7»-s nta'n.-íảnintKA'(A) Duo. 1 rcuunl kit (XovuuXimiKli1 icilinw58IS10ÍK: Prc«>iii0iiiiiỉ8tÍL totxục Ltuiaklrr Psychological studies in huntingtons dis nl SI rvlMkci tu ponililr tewtinp Ilf ixigúíng prcfpuiiiv550(C) Toting «1 aayinpfeMiulk iKircnl ■ inveóp>ú»n of child;i xvỈAtxci til936ToolT2so10systePsychological studies in huntingtons dis
m and to some extent also for the familial cancers. Although direct presymptomatic testing for myotonic dystrophy his now been available for eight yeaDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis prompted the present study, in conjunction with experience of direct molecular testing as a service in our centre, reported separately.'Patients and methodsSince die identification of the specific gene mutation in 1992, up to June 2000, out of a total of 287 molecular analyses for the disorder in s Psychological studies in huntingtons dis ubjects living in Wales (population 2.9 million), there were 78 presymptomaũc tests for myotonic dystrophy; by comparison 205 diagnostic tests on sympPsychological studies in huntingtons dis
tomatic subjects were performed and four prenatal tests. Ihc laboratory methods used and the overall composition and outcomes of the series are descriDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis clinical geneticists providing the clinical genetics service for Wales over this eight year period, based in the Institute of Medical Genetics, Cardiff, the remaining six samples having been received from neurologists and pacdiaưicians. Data about the counselling approach were ascertained through th Psychological studies in huntingtons dis e clinical genetics service notes and correspondence, supplemented by further discussion with the relevant clinical geneticist. We did not recontact aPsychological studies in huntingtons dis
ny patients.No single or specific counselling approach to prcsymptomatic testing in myotonic dystrophy has been advocated in Wales over this period, tDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis were seen in their local medical genetics clinic by the clinical geneticist and genetics nurse specialist with designated responsibility for the particular district, not in a specialist clinic for die disorder.ResultsWhen grouped according to the perspective of the subject tested, three different pr Psychological studies in huntingtons dis esympto-matic test situations could be distinguished (table 1). Ihc largest group of subjects (A, n=58) represented the classical presympto-matic testPsychological studies in huntingtons dis
situation with persons at 50% risk.wwwjmedgew r.Downloaded from jmg.bmj com on July 15, 2011 - Published bygroup.bmj.c https'//khothu viên cornLearnTDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonic Psychological studies in huntingtons dis I:i vi 1 tw step -appnsKh. rej.-LU.-d by d,.- )Krxm 11 rút.21.1(2) trilcnrscdúlc apprruih A Bk«-«J uken by íuiũlv Aclur ec JOKU. nunc spoúatúl ul interval atter fir* ÍLTXUL L-ounwilru xróooJB Btood taken M tint ecnctK o.Mjrzdling wwcu stored until vtuiruinM»» Ui petKxvd frcBJi pgUcnl.5S'-(Yj Oneuppc Psychological studies in huntingtons dis vudi A Blood taken M first Ifcortii wurrcllcat session16JW1IB lỉóxxl lalai by lie Ịcnetú. nunc spa.úli.1 s> S.IO.-, lẹcxHtÍL counwllinc time wuon onlyPsychological studies in huntingtons dis
in raw of an abnxmil renik9vtDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonicDownloaded from jmg.bmj com on Ally 15, 2011 - Published by groyp.bmj.c https7/khothuvi6n comMoLetters to the EditorPresymptomatic testing in myotonicGọi ngay
Chat zalo
Facebook