1 - Gaucher - L-myc gene (involved in small cell carcinoma) - Presenilin 2 (Alz) ) - "ys!

ic #i*rosis ("#+$)

3 - Von Hippel Lindau (VHL) - Hun!ing!on ("AG) - Achondroplasia (#G#$3 gene)

% - "ri-&u-"ha! (%p-) - AP" (#AP)

' H#( gene Hemochroma!osis

, - "-myc gene (involved in -ur.i!!/s lymphoma)

0 - P 1' +umor suppressor gene (1elanoma) - #riedreich/s A!a2ia (#ra!a2in gene GAA !riple repea!s) 1% - +ay-5achs (He2osaminidase A) - 1ar6an (#-41) - Prader-7illi 8 Angelman (imprin!ing)

13

11 - 4iemman Pic. (sphingomyelinase) - -e!a Glo*in "hain (-+hal) - -"L-1 Gene (cyclin &)

12

13 - Pa!au +risomy - $- Gene (re!ino*las!oma and os!eosarcoma) - -$"A 2

1 - Presenilin 1 (alzheimer)

1' - P"9&1 (polycys!ic .idney disease : polycys!in1) - ; Glo*in "hain (Alpha +hal) - +u*erous 5clerosis (+5"2) 22 - 4#2 (4euro6i*roma!osis

1) - 4#1 (4euro6i*roma!osis !ype 1 : Von $ec.lingHausen) - P %3 --$"A 1

1, - (d<ards +risomy - -"L 2 - &"" (colon)

10 - #amilial Hyper "holes!erolemia (L&L $ecep!or mu!a!ion)

23

21 - &o<n/s +risomy - --APP Pro!ein (Alzheimer) - 5=&1 (supero2ide dismu!ase : al!ered in AL5)

23

2 : 1erlin pro!ein) - &iGeorge 5yn> (locus 11 dele!ion)

Baronerocks.com

? - 1en.es 5yndrome (A+P)A "opper (66lu2 Pro!ein) - #ragile ? 5yndrome ("GG on gene #1$-1) - -ru!on/s (-+9 gene) Agammaglo*ulinemia - Lesch-4yhan (HP$+1) - 7is.o!! Aldrich (7A5P Pro!ein) -5"@& (@L recep!or mu!a!ion) - &uchenne 1& (&ys!rophin) - Alpor!s ("=L A%) - Hemophilia A8- (#,80)

Auan!i!a!ive 5e2ual "hromosome &iseases - 9line6el!er 5yndrome ??B (-arr -ody) - +urner 5yndrome ?= (5ho2 Gene)

-aroneroc.s>com +ransloca!ions

0C22 C Philadelphia (-cr-A*l over e2pression> P2139& +yrosine 9inase> @n "1L i! provides *e!!er prognosisD in ALL i! provides <ors! prognosis>) ,C1 C -ur.i!!/s Lymphoma ("-myc gene over e2pression) 11C1 C 1an!le "ell Lymphoma (-cl-1 gene A.a "yclin &) 1 C1, C #ollicular 4HL (-cl-2) 1%C1) C A1L 13 (Auer $odsD &@") 11C22 C (<ing/s 5arcoma 12C21 C Provides *e!!er prognosis in ALL