Fact Sheets
A series of 64 Genetics Fact Sheets produced by the Centre for Genetics Education. They can 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
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]