Fact Sheets
A series of 64 Genetics Fact Sheets produced by the Centre for Genetics Education and may be printed or photocopied for educational purposes.
Associate Professor Kristine Barlow-Stewart - EDITOR
Gayathri Parasivam - EDITOR
Editorial Team
Kate Dunlop
Eleni Mastrocostas
Vicki Reid
Dominic Ross
Mona Saleh
All Genetics Fact Sheets are now available in HTML format
Human Genetics and Patterns of Inheritance
1. Genes and Chromosomes [PDF version] [HTML version]
2. Genetic Conditions – Overview [PDF version] [HTML version]
3. Genetic Counselling [PDF version] [HTML version]
4. Changes to the Genetic Code [PDF version] [HTML version]
5. Changes That Make A Gene Faulty [PDF version] [HTML version]
6. Changes to Chromosomes – Number, Size and Structure [PDF version] [HTML version]
7. Changes to Chromosome Structure - Translocations [PDF version] [HTML version]
8. Autosomal Recessive Inheritance - Traditional Patterns of Inheritance 1 [PDF version] [HTML version]
9. Autosomal Dominant Inheritance - Traditional Patterns of Inheritance 2 [PDF version] [HTML version]
10. X-linked Inheritance - Traditional Patterns of Inheritance 3 [PDF version] [HTML version]
11. Environmental and Genetic Interactions - Complex Patterns of Inheritance 1 [PDF version] [HTML version]
12. Mitochondrial Inheritance - Complex Patterns of Inheritance 2 [PDF version] [HTML version]
13. Mosaicism - Complex Patterns of Inheritance 3 [PDF version] [HTML version]
14. X Chromosome Inactivation – Epigenetics 1 [PDF version] [HTML version]
15. Genetic Imprinting - Epigenetics 2 [PDF version] [HTML version]
16. When Parents are Relatives – Consanguinity [PDF version] [HTML version]
Genetic testing, screening and prevention
17. Prenatal Testing – Overview [PDF version] [HTML version]
17A. Prenatal Testing - Ultrasound [PDF version] [HTML version]
17B. Prenatal Testing– 1st & 2nd Trimester screening [PDF version] [HTML version]
17C. Prenatal Testing – CVS & Amniocentesis [PDF version] [HTML version]
18. Preimplantation Genetic Diagnosis [PDF version] [HTML version]
19. Folate Before and During Early Pregnancy [PDFversion] [HTML version]
20. Newborn Screening for Genetic Conditions [PDF version] [HTML version]
21. DNA Genetic Testing - Screening for Genetic Conditions and Genetic Susceptibility [PDF version] [HTML version]
Genetic technologies and their implications
22. DNA Genetic Testing – Paternity and Forensic Use [PDF version] [HTML version]
23. Some Ethical Issues in Human Genetics [PDF version] [HTML version]
23A. Life Insurance Products and Genetic Testing in Australia [PDF version] [HTML version]
24. The Human Genetic Code – The Human Genome Project and Beyond [PDF version] [HTML version]
25. Pharmacogenetics/Pharmacogenomics [PDF version] [HTML version]
26. Cloning and Stem Cells [PDF version] [HTML version]
27. Gene Therapy [PDF version] [HTML version]
Genetic conditions caused by chromosomal changes
28. Trisomy 21 – Down Syndrome [PDF version] [HTML version]
29. Trisomy 13 – Patau Syndrome [PDF version] [HTML version]
30. Trisomy 18 – Edwards Syndrome [PDF version] [HTML version]
31. Klinefelter syndrome – XXY Syndrome [PDF version] [HTML version]
32. Turner Syndrome – XO Syndrome [PDF version] [HTML version]
Genetic conditions where one or more genes may be contributing
33. Cystic Fibrosis [PDF version] [HTML version]
34. Thalassaemias and Sickle Cell Disease [PDF version] [HTML version]
35. Tay-Sachs Disease and Other Conditions More Common in the Ashkenazi Jewish Community [PDF version]
[HTML version]
36. Hereditary Haemochromatosis [PDF version] [HTML version]
37. Neurofibromatosis Type 1 [PDF version] [HTML version]
38. Achondroplasia and Other Short Stature Syndromes [PDF version] [HTML version]
39. Blood Clotting Conditions (Thrombophilias) – Bleeding Conditions 1 [PDF version] [HTML version]
40. Haemophilia – Bleeding Conditions 2 [PDF version] [HTML version]
41. Duchenne and Becker Types of Muscular Dystrophy [PDF version] [HTML version]
42. Fragile X Syndrome [PDF version] [HTML version]
43. Autism Spectrum Disorders [PDF version] [HTML version]
44. Huntington Disease –Neurological Conditions 1 [PDF version] [HTML version]
45. Alzheimer Disease and Dementia –Neurological Conditions 2 [PDF version] [HTML version]
46. Parkinson Disease - Neurological Conditions 3 [PDF version] [HTML version]
47. Cancer, Genes and Inherited Predisposition Overview – Cancer Genetics 1 [PDF version] [HTML version]
48. Breast and Ovarian Cancer and Inherited Predisposition – Cancer Genetics 2 [PDF version] [HTML version]
49. Bowel Cancer and Inherited Predisposition – Cancer Genetics 3 [PDF version] [HTML version]
50. Melanoma and Inherited Predisposition –Cancer Genetics 4 [PDF version] [HTML version]
51. Prostate Cancer and Inherited Predisposition – Cancer Genetics 5 [PDF version] [HTML version]
52. Neurofibromatosis Type 2 [PDF version] [HTML version]
53. Familial Hypercholesterolaemia - Cardiovascular Disease 1 [PDF version] [HTML version]
54. Cardiomyopathies - Cardiovascular Disease 2 [PDF version] [HTML version]
55. Long QT Syndrome - Cardiovascular Disease 3 [PDF version] [HTML version]
56. Hypertension, Heart Defects and Other Rare Conditions - Cardiovascular Disease 4 [PDF version] [HTML version]
57. Diabetes Types 1 and 2 and Inherited Predisposition [PDF version] [HTML version]
58. Mental Illness and Inherited Predisposition - Schizophrenia and Bipolar Disorder [PDF version] [HTML version]
59. Neural Tube Defects – Spina Bifida and Anencephaly [PDF version] [HTML version]
60. Deafness and Hearing Loss – Genetic Aspects [PDF version] [HTML version]