1 2 3 4 5 6

- Gaucher - Von Hippel Lindau - Huntington (CAG) - Cri-Du-Chat (5p-) HFE gene
- L-myc gene (VHL) - Achondroplasia - APC (FAP) Hemochromat-
(involved in small (FGFR3 gene) osis
cell carcinoma)
- Presenilin 2 (Alz)

7 8 9 10 11 12

- Cystic Fibrosis - C-myc gene - P 16 Tumor - Niemman Pick

(CFTR) (involved in suppressor gene (sphingomyelinase)
Burkitt's (Melanoma) - Beta Globin Chain
lymphoma) - Friedreich's Ataxia (β-Thal)
(Frataxin gene - BCL-1 Gene
GAA triple repeats) (cyclin D)

13 14 15 16 17 18

- Patau Trisomy - Presenilin 1 - Tay-Sachs - PCKD1 (polycystic - NF1 - Edwards

- RB Gene (alzheimer) (Hexosaminidase A) kidney disease – (Neurofibromatosis Trisomy
(retinoblastoma - Marfan (FBN1) polycystin1) type 1 – Von
and - Prader-Willi & - α Globin Chain RecklingHausen) - BCL 2
osteosarcoma) Angelman (Alpha Thal) - P 53
- BRCA 2 (imprinting) - Tuberous -BRCA 1 - DCC (colon)
Sclerosis (TSC2)

19 20 21 22 23

- Familial Hyper - Down's Trisomy - NF2

Cholesterolemia - B-APP Protein (Neurofibromatosis
(LDL Receptor (Alzheimer) 2 – Merlin protein)
mutation) - SOD1 (superoxide - DiGeorge Syn.
dismutase – altered (locus 11 deletion)
in ALS) Baronerocks.com
 X Quantitative Sexual Y
Chromosome Diseases
- Menkes Syndrome (ATP7A
Copper Efflux Protein) - Klinefelter Syndrome XXY
- Fragile X Syndrome (Barr Body)
(CGG on gene FMR-1)
- Bruton's (BTK gene) - Turner Syndrome XO
Agammaglobulinemia (Shox Gene)
- Lesch-Nyhan (HPRT1)
- Wiskott Aldrich
(WASP Protein)
-SCID (IL receptor mutation)
- Duchenne MD (Dystrophin)
- Alports (COL4A5)
- Hemophilia A&B (F8&9) Baronerocks.com

Translocations

9:22 : Philadelphia (Bcr-Abl over expression. P210KD Tyrosine Kinase. In CML it

provides better prognosis, in ALL it provides worst prognosis.)

8:14 : Burkitt's Lymphoma (C-myc gene over expression)

11:14 : Mantle Cell Lymphoma (Bcl-1 gene Aka Cyclin D)

14:18 : Follicular NHL (Bcl-2)

15:17 : AML M3 (Auer Rods, DIC)

11:22 : Ewing's Sarcoma

12:21 : Provides better prognosis in ALL