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