1. CHROMOSOMES

2. The packaging for our genes Genes are the instructions used to make functional products Proteins are the basic component of all living cells CHROMOSOMES What are they?

4. In every cell of our body, except for red blood cells CHROMOSOMES Where are they?

5. Can see chromosomes under microscope during cell division CHROMOSOMES What do they look like?

6. CHROMOSOMES p arm “petit” q arm centromere telomere 654321654321 chromosome region “3p21” 2 1 1 2

7. 46 chromosomes 22 pairs of autosomes 1 pair sex chromosomes HUMAN KARYOTYPE

10. Which one is the Y? SEX CHROMOSOMES

11. Fruit Fly8 Peas14 Goldfish94 Dogs78 Humans46 CHROMOSOMES How many chromosomes do other organisms have?

12. MITOSIS

13. MEIOSIS

15. CHROMOSOME DIFFERENCES

16. Down syndrome Cri du Chat syndrome Williams syndrome CHROMOSOMES What are some disorders that are caused by chromosomal imbalances?

17. DOWN SYNDROME Photo provided by CDSS

18. Common Physical Features Decreased muscle tone at birth Simian crease Upward slanting eyes Heart defects Shorter height Development Moderate to severe mental retardation Delay in language, cognitive, motor Treatment Life Expectancy 50% live longer than 50 years. Impact of this condition on the affected person and their family DOWN SYNDROME

19. MEIOSIS AGAIN... trisomy Normal MeiosisAbnormal Meiosis: Non-disjunction

20. CRI-DU-CHAT SYNDROME Photos provided by www.criduchat.asn.au www.criduchat.asn.au

21. DELETION

22. TRANSLOCATION Reciprocal

23. 46,XX,t(2;17)(q21.3;q25.2) TRANSLOCATION Reciprocal

24. 45,XX,der(13q;14q) * * TRANSLOCATION Robertsonian

25. Microdeletion of chromosome 7q11 “cocktail party” personality Moderate to severe learning problems WILLIAMS SYNDROME

26. A man carries a 21q21q Robertsonian translocation. What is the chance that he will have a baby without a chromosome problem? QUESTION??