10: Genetic Vocabulary

Question 1

Result from complex interaction of multiple genes in various sites.
May also be caused by interaction of genes with the environment.

Answer 1

Multifactorial (complex) gene disorders

Question 2

Children receive two copies of one chromosome from one parent and none from the other parent.

Answer 2

Uniparental disomy

Question 3

Abnormal development of an organ or large body part from an intrinsically abnormal process.

Answer 3

Malformation

Question 4

Disorder that doesn’t fall into typical inheritance patterns.

Answer 4

Nontraditional inheritance disorder

Question 5

Abnormal shape or position of body part caused by external mechanical forces.

Answer 5

Deformation

Question 6

Probability a gene will be expressed.

Answer 6

Penetrance

Question 7

Occurs only when a person has homozygous alleles.

Answer 7

Autosomal recessive

Question 8

Less common because often fetus does not make it to term. Males frequently have worsened manifestation of disease.

Answer 8

X-linked dominant

Question 9

Female carriers pass to their sons. Females may be carriers (heterozygous) or have condition (homozygous).

Answer 9

X-linked recessive

Question 10

Typically cause neurodegenerative disorders.

Worsen with each generation.

Answer 10

Trinucleotide repeat disorders

Question 11

Internally coded inheritable information.

Answer 11

Genotype

Question 12

Abnormal organization of cells into tissues.

Answer 12

Dysplasia

Question 13

A single gene is altered.

Answer 13

Single gene disorder

Question 14

Mutation occurs in a cell of the developing organism after fertilization.

Answer 14

Germline mosaicism

Question 15

Identifies missing, additional or rearranged chromosomal material.

Answer 15

FISH (Fluorescence in situ hybridization)

Question 16

More likely to cluster in families.

Answer 16

Multifactorial (complex) gene disorders

Question 17

This DNA comes from ovum.

Answer 17

Mitochondrial DNA

Question 18

Multiple genes lead to problem.

Answer 18

Multifactorial disorder

Question 19

Can never be passed from father to son.

Answer 19

X-linked inheritance

Question 20

One gene dominates its counterpart from the other parent.

Answer 20

Autosomal dominant

Question 21

Defect of organ or large body part caused by external interruption of normal process.

Answer 21

Disruption

Question 22

Entire chromosome or large segment of it is missing or duplicated.

Answer 22

Chromosomal disorder

Question 23

Failure of pairs to separate properly during meiosis.

Answer 23

Nondisjunction anomalies

Question 24

The severity of disease may vary from person to person despite similar genotypes.

Answer 24

Variable expressivity

Question 25

For a female to have the condition, her father must be affected.

Answer 25

X-linked recessive

Question 26

Outward physical manifestation.

Answer 26

Phenotype

Question 27

Substances that can damage an embryo; NOT a genetic disorder.

Answer 27

Teratogens