1. Loss of heterozygosity in human colon cancers
Figure The Biology of Cancer (© Garland Science 2007)

2. The AS/PWS region of chromosome 15q
Redrawn and updated from Jiang et al. Am J Hum Genet 65:1-6 (1999)

3. 22q11 deletion di George Syndrome / Velocardiofacial Syndrome
Findings can include
Dysmorphic appearance/short stature
Cleft palate
Conotruncal heart defects
Developmental delay
Immunologic abnormalities
Hypocalcemia
Psychiatric illness
Sporadic or autosomal dominant
There are many associated abnormalities which may sometimes be transmitted as a dominantly inherited condition

5. Chromosomal structural variants with phenotypic effects
from Sharp et al. Annu Rev Genomics Hum Genet 7: , 2006

6. individual value
mean & 95% c.i.
Sachse et al. Am J Hum Genet 60: (1997)

9. Examples of diseases associated with triplet repeat expansion
repeat repeat
Type Disease MIM mode sequence location normal pre-mut’n mutation
I HD AD CAG ORF I SCA AD CAG ORF I SCA AD CAG ORF I MJD AD CAG ORF
II DM AD CTG 3' UTR ~ ~200 - >2000 II FRAXA X* CGG 5' UTR >2000

10. Size of SCA7 repeat correlates with age of disease onset
redrawn from Giunti et al.
Am J Hum Genet 64:1594(1999)

11. from Zoghbi HY, “The expanding world of ataxins”
(Nature Genetics 14: , 1996)

12. Inheritance of fragile-X alleles and phenotypes
PARENT XfX+ XfX+ XfY carrier female affected female transmitting male CHILDREN 25% X+X+ 25% X+X normal female normal female
25% X+Y 25% X+Y 50% X+Y normal male normal male normal male
8% XfX+ 14% XfX affected female affected female
17% XfX+ 11% XfX+ 50% XfX carrier female carrier female carrier female
19% XfY 25% XfY affected male affected male
6% XfY transmitting male