Genetic Disorders

Question 1

What is Euploid, Polyploid, and Aneuploidy cells?

Answer 1

Euploid=normal number of chromosomes.
Poly=multiple of 23 chromosomes.
Aneuploidy= Mismatch of single chromosome set.

Question 2

What are the following Trisomy syndromes? Trisomy 13, 18, 21?

Answer 2

13=Patau syndrome
18= Edwards syndrome
21=Downs syndrome

Question 3

What are the effects of Patau syndrome?

Answer 3

Polydactyly, microcephaly, cleft lip and palate.

Question 4

What are the effects of Edwards syndrome?

Answer 4

Kidney malformations, protruding intestines, Micrognathia.

Question 5

What are the effects of downs syndrome?

Answer 5

Maxillary retrognathia, enamel hypoplasia, periodontal disease.

Question 6

What is Turner syndrome? Characteristics?

Answer 6

Only 1 X chromosome.

Steril, short, webbed neck, edema, shield chest, out-turned arms, low hairline on neck.

Question 7

What is Klinefelter syndrome? Characteristics? Dental features?

Answer 7

2 X and 1 Y.
Male appearance, fertile, some breast development, underdeveloped male genitals, long limbs.

-Have Taurodontism.

Question 8

What is Marfan syndrome? Effects what? Characteristics? dominant or recessive?

Answer 8

Autosomal Dominant CT disorder. Abnormal elastic fibers.

• Long limbs
• Subluxation of eye lens
• Mitral vale prolapse
• Increased risk of caries and cleft palate.

Question 9

What is incomplete penetrance? Example?

Answer 9

Genotype does not express the expected phenotype.

Retinoblastoma.

Question 10

What is expressivity? Example?

Answer 10

Variation in a phenotype.

Von Recklinghausen is a neurofibromatosis, can range from small dark spots to large tumors.

Question 11

What are examples of X-linked disorders?

Answer 11

Hemophilia A and B. Duchenne muscle dystrophy.