OTHER TYPES OF INHERITANCE

Question 1

alterations in the number/structure of chromosomes

Answer 1

Cytogenetic Disorders

Question 2

46XX or 46XY

Answer 2

Normal

Question 3

an exact multiple of the haploid number (23)

Answer 3

Euploidy

Question 4

not an exact multiple of 23

Caused by nondisjunction or anaphase lag

Answer 4

Aneuploidy

Question 5

occurs in gametogenesis; leads to an extra chromosome or loss of a chromosome

Answer 5

Nondisjunction

Question 6

results in loss of too much genetic materal to have a live birth

Answer 6

Monosomy

Question 7

mitotic errors early in development which give rise to two or more populations of cells in the same individual

In sex chromosomes is common; autosomal mosaicism not so much

Answer 7

Mosaicism

Question 8

one segment of a chromosome is transferred to another; 2 types

Answer 8

Translocation

Balanced Reciprocal
Robertsonian

Question 9

name the translocation

single breaks in two chromosomes w/ exchange of material

Answer 9

Balanced Reciprocal

Question 10

name the translocation

(aka centric fusion) translocation between two acrocentric chromosomes

Answer 10

Robertsonian

Question 11

rearrangement involving 2 breaks w/in a single chromosome w/ inverted
reinsertion of the segment

Answer 11

Inversion

Question 12

terminal ends of chromosome are lost & remaining chromosome circularizes

Answer 12

Ring Chromosome

Question 13

one arm is missing and the other arm is duplicated

Answer 13

Isochromosome

Question 14

trisomy 21

Most common chromosomal disorder

95% - from meiotic nondisjunction

Maternal age has a strong influence (>35)

Answer 14

Down’s Syndrome

Question 15

trisomy 13

meiotic nondisjunction
-Associated w/ increased maternal age

Answer 15

Patau’s Syndrome

Question 16

trisomy 18

Answer 16

Edward’s Syndrome

Question 17

5p deletion

• Severe mental retardation
• Cat-like cry
• Congenital heart disease
• Hypertelorism
• Epicanthus
• Retrognathia

Answer 17

Cri-du-Chat Syndrome

Question 18

an extra X chromosome in a male (47, XXY)/ (48, XXXY)

Most common form of genetic disease involving sex chromosomes

Answer 18

Klinefelter Syndrome

Question 19

tall and thin; phenotypically normal

Answer 19

XYY Syndrome

Question 20

complete or partial monosomy of the X-chromosome; (45, X); (46, X,i(Xq))

Answer 20

Turner Syndrome

Question 21

defect in synthesis of fibrillar collagen

Answer 21

Ehlers-Danlos Syndrome

Question 22

46XY female

Answer 22

Androgen Insensitivity Syndrome

Question 23

name this Triple Repeat Mutations

multiple tandem repeats of CGG due to a mutation in the FMR1 gene

29 repeats
50-200 repeats
200-4000 repeats

Answer 23

Fragile X Syndrome

Normal
Premutations of Fragile X
Full Mutations of Fragile X

Question 24

The conversion of premutation to full mutation occurs

Answer 24

during oogenesis

Question 25

Clinical signs of fragile X syndrome

Answer 25

• Severe mental retardation
• 2 most common genetic cause
• Most common inherited cause
• Enlarged testes
• Elongated face
• Large everted ears

Question 26

unique features of fragile X syndrome?

clinically and cytogenetically normal; transmit
disease to grandchildren through daughters

Answer 26

Carrier males

Question 27

unique features of fragile X syndrome?

30-50% of carrier females are affected

Answer 27

Affected females