Changes in Chromosome Structure

Question 1

Deletion

Answer 1

when an end of a chromosome breaks off or when two simultaneous breaks lead to the loss of an internal segment of a chromosome

Question 2

Duplication

Answer 2

the presence of a chromosomal segment more than once in a single chromosome

Question 3

Inversion

Answer 3

a segment of a chromosome flips 180 degrees

Question 4

Translocation

Answer 4

the movement of genetic information from one chromosome to a non-homologous chromosome

Question 5

William’s Syndrome

Answer 5

deletion syndrome
– loss of a tiny piece of chromosome 7
– physical abnormalities
– learning disabilities
– excellent verbal and musical abilities
– reduced elastin
– mental health issues

Question 6

Cri du Chat (“cat’s cry”

Answer 6

deletion syndrome
– missing the end of chromsome 5
– physical abnormalities
– intellectual disabilities
– abnormal development of the glottis and larynx make the infant’s cry similar to that of a cat

Question 7

Allagille Syndrome

Answer 7

translocation syndrome
– translocation between chromosomes 2 and 20
– heart defects
– clubbed fingers