Chapter 12: Chromosomal Abnormalities
Figure 12Bc
Figure 12Bda
Figure 12.10a
NONDISJUNCTION CHANGES
CHROMOSOME NUMBERS
Figure 12.10b
NONDISJUNCTION CHANGES
CHROMOSOME NUMBERS
Figure 12Bdb
Figure 12.11 DOWN SYNDROME & Gart Gene
Figure 12.11b
Figure 12Ba
Figure 12Bb
Figure 12.12a
Figure 12.12b
Trisomy 18 - Edward's Syndrome• Failure to grow and gain weight at the expected rate and severe feeding difficulties,
diminished muscle tone and episodes in which there is temporary cessation of spontaneous breathing
• Developmental delays and intellectual disability• A prominent back portion of the head, low-set, malformed ears, an abnormally
small jaw, a small mouth an upturned nose, narrow eyelid folds, widely spaced eyes, and drooping of the upper eyelids
TRISOMY 13 (also known as Patau syndrome) - Of all babies born with the extra copy of chromosome 13 in all the cells of their body, around 50% die in the first month, and the rest within the first year Median survival age for children with Patau syndrome is 2.5 days
CHROMOSOME MUTATIONS
Figure 12.13
Figure 12.13a
Figure 12.13b
Figure 12.13c
Figure 12.13d
Figure 12.14
DELETION MUTATION (WILLIAMS SYNDROME)
Williams Syndrome –
Deletion of Chromosome 7
Figure 12.16
Figure 12.16b
CRI DU CHAT
Deletion of Chromosome #5
FRAGILE X - duplication mutation