FINAL

Question 1

Define Genetics?

Answer 1

To be derived from, or begin with.

Question 2

Define Genotype?

Answer 2

The combined genetic code for any given trait

Question 3

Define Anomaly?

Answer 3

any deviation from normal structure, form, or function that is considered to be abnormal.

Question 4

Define Phenotype?

Answer 4

The actual physical and behavioral expression of the trait

Question 5

Define Syndrome?

Answer 5

A set of multiple anomalies that occur in a consistent and recognizable pattern and result from common pathogentic etiology

Question 6

Define Heredity?

Answer 6

the transmission of genetic characters from parents to offspring: it is dependent upon the segregation and recombination of genes during meiosis and fertilization and results in the genesis of a new individual

Question 7

To be derived from, or begin with.

Answer 7

Define Genetics?

Question 8

The combined genetic code for any given trait

Answer 8

Define Genotype?

Question 9

any deviation from normal structure, form, or function that is considered to be abnormal.

Answer 9

Define Anomaly?

Question 10

The actual physical and behavioral expression of a trait

Answer 10

Define Phenotype?

Question 11

A set of multiple anomalies that occur in a consistent and recognizable pattern and result from common pathogentic etiology

Answer 11

Define Syndrome?

Question 12

the transmission of genetic characters from parents to offspring: it is dependent upon the segregation and recombination of genes during meiosis and fertilization and results in the genesis of a new individual

Answer 12

Define Heredity?

Question 13

Define Organic

Question 14

Name the levels and the correlating IQ associated with ID?

Answer 14

• Mild 50-75
• Moderate 35-49
• Severe 34 or below
• Profound Need full assistance
  with self-help skills

Question 15

Describe Autosomal Dominant

Answer 15

Gene that has the ability to be expressed even when the other member of the pair does not code for the same trait.
If gene on autosome (1-22 chromosome)
Autosomal dominant traits = 100% penetrance = 50% recurrence risk with one parent affected

Question 16

Describe X-Linked disorders?

Answer 16

May be recessive or dominant (usually more X-linked recessive disorders)
Mechanism of gene expression
(dominant vs. recessive same; but mode of inheritance is different; mutant genes are on X chromosome)

Question 17

Describe Autosomal Recessive?

Answer 17

Both halves of the gene pair must be the same copy of the gene to be expressed.
IF: only one copy of the gene is present and other member of the pair is not the mutant gene, the resulting individual is phenotypically normal, but is known as a carrier.

Question 18

Describe X-Linked Dominant?

Answer 18

Dominant genes are located on the X chromosome
Expected pattern of distribution of the mutant gene is similar to autosomal dominant traits (except no affected males among the children of affected males because male children cannot inherit an X chromosome from father)
*50% of offspring of father will be affected and both will be female because they must inherit the father’s single X chromosome; mother affected with X-liked dominant, distribution of affected offspring exactly the same as in an autosomal dominant disorder)

Question 19

What are some disorders for Autosomal dominant?

Answer 19

Trecher Collins Syndrome (Conductive hearing loss, cleft palate, hypernasality, anterior skeletal open bite)

Waardenburg Syndrome (sensorineural hearing loss, some cleft palate)
 Apert Syndrome (mental retardation, open bite, cleft palate

Question 20

What are some syndromes related to HL?

Answer 20

Down Syndrome
Waardenburg Syndrome
Brachila-oto-renal
Pendred Syndrome
Ushers Syndrome

Question 21

HOW MANY GENES IN THE HUMAN GENOME?

Answer 21

20,000-25,000