Intro To Genetics- Lecture 8/25/21

Question 1

Modes of inheritance

Answer 1

Mendelian and non-Mendelian

Question 2

Dysmorphology

Answer 2

The abnormal shape and characteristics of a patient

Question 3

Phenotype

Answer 3

The outward (observable) appearance of an individual ex: hair color, eye color, height

Question 4

Genotype

Answer 4

Genetic makeup of an individual, description of chromosomes or alleles

Question 5

Allele

Answer 5

Particular copy of a gene on a chromosome, have 2 per each deal

Question 6

Karyotype

Answer 6

Chromosome analysis under a microscope

Question 7

Trisomy

Answer 7

Three copies of a chromosome, usually not survivable

Question 8

Somatic

Answer 8

Occurring in the body, but not in the gametes

Question 9

Germline

Answer 9

Occurring in the testes or ovaries and can be passed to offspring

Question 10

Mosaic

Answer 10

Two or more cell lines in one person, 45X or 46XX (mosaic is for Turner syndrome)

Question 11

Pathogenic

Answer 11

Genetic alteration causing disease

Question 12

Benign

Answer 12

Not pathogenic genetic changes

Question 13

Uncertain

Answer 13

Unclear if it causes disease state or not (usually the case)

Question 14

Constitutional

Answer 14

Present at birth, usually in all cells (used in the context of cancer

Question 15

Acquired

Answer 15

Change happens after birth, associated with cancer, usually somatic

Question 16

Congenital

Answer 16

Present at birth, usually before birth

Question 17

Inherited

Answer 17

Passed on from a parent (can have genetic changes that are not inherited)

Question 18

Pedigree

Answer 18

Essential for history taking, suspecting mode of inheritance, identify at-risk relatives

Question 19

Male, female, sex unspecified

Answer 19

Open square, open circle, open diamond

Question 20

Consultant

Answer 20

Arrow pointing to open square/circle

Question 21

Deceased

Answer 21

Lined out square/circle

Question 22

Affected with trait

Answer 22

Filled in square/circle

Question 23

Carrier (autosomal recessive or X-linked)

Answer 23

Dot in the middle

Question 24

Adopted

Answer 24

Bracketed

Question 25

Consanguinity

Answer 25

Married to a blood relative-> double line indicating marriage