Anda di halaman 1dari 51
a6 20 Sow Hide Extention Explanation ‘The correct answer's: (C) Neurobromatosis ype 2 ‘This patent has tera acoustic neuroma lang to balance fcuties are hearing loss, which are mostly a completion of neurafeamaies's ype 2 Ths isan autsomal dominant concion caused bya mulation of te NF2 gene on eiomosome 72 Patios are at IReteased isk lor neural tums such as scous neuromas and manngemas, wich may be asymptomatic for years. They are also st Increased ns lr peripheral neuropathy, clara, and sn lesions. ist dogles raves Swed be lstd fo the presence of he muito so ‘hat hey can undorg early tuner Soong. Answer A: Hunton’ dsoaso acu du oatinudeotide expansion on chvomesome&, Patents do et present wih symploms ut mle ‘aged and have chorefom movanents, deren, and depression Answer B: Neurotbroetoss ype 1 an autosomal donna disease det mutaton of the NEY gene.on cromesome 17, esd t {xf-eusa son, ecting, scoless, glomas, is hamsomas, end pheoctomocyomas,Acousic neuroma ae Mote Charsclensic of nouroroemaio' pe 2 [Answer D: Tubotoussdlross can cause hypopigmented stn esis, known as ash ea pos, seizures, mental relrdaten, nd neepasms ‘Sch ashamaremas and asrocyemas [Answer E: Von Hopo-Lindau discaso is duo to a mutaten of th tumer suppressing gone VHL on chromosome 3, Patonts area high sk or ‘renal cel carcinoma and henangetiasiomas ofthe ona and conta nervous systor. ‘Boom Line: Neurormatosis ype 2s an aulosamal dominant scrdor duo fo auton of the NF2 pone on chemosame 22 Patios aro ‘treacle or daveloing neural ors sch as acoustic neuromas and menniyomae Formereinferation, see win update com ‘Newottromatoss ype rrr (B) Aortic aneurysm i (©) Colon cancer © (D) Naignantmetanoma (E) Retronastoma Explanation ‘The cect answer: (0 ) Magnan melanome Mutations inthe nuceoio excsion rar protons cn lad to xeroderma papmoniosar. Patt ack the abit to ropa Bymidne ds that ‘occur folowing sin exposure, which goat ncteases he sk of ek cancers such a6 malignant melanoma and Dasl cll carcinoma. Patents rsont wit ty skin and neeasod areas of yporpigmetation at ook ko neces, [Answer A: Acoustic nowemas ar complcaons of neuroma type 2. Ths due toa mutation win te NF2 gone ‘Answer B: Aecic anourysms can be seonin Mafan'ssyndteme. This occurs due fo mulation within fe rit gone ‘Answer C: Colon cancer alate complication of hertrynongypess clon cance, chs due fo amulaion inthe mismatch repait rrechonsm Angwer E: Retincblasoma can ocur wih amutaten to the Rb gene, whichis necessary or celle regulation. ottom Line: Xeradema pgentasum & an autosoral cessive canon causing defectva nucectise exon repair Patents present wth photoset, dyske. and ecuse mantestatens Foc mere infomation, se hp: emaccine madscape convert 16602-ovenview 8 2 ia (E} Tuberous sclerosis: | Snow /Hido Extention Explanation ‘The comect answers: (© ) Fai nypercotesterceris “This pant assigns characters of ama! hyporcnolesteoloma, whic du to an autosomal dominant mutton causing doco ow

Anda mungkin juga menyukai