Datc Nrsg 1022 Genetics

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Mosaicism

Back 1

After fertilization; two different cell lines each with different chromosome numbers; most common is Down Syndrome

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Monosomies

Back 2

Missing a copy of a gene; incompatible with life

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Trisomies

Back 3

Product of union of egg and sperm which results in three copies instead of two: Down Syndrome most common

Front 4

Deletions

Back 4

Missing portion of genetic material; may vary in severity of expression

Front 5

Inversion

Back 5

can occur in wrong portion/placement

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Translocation

Back 6

abnormal rearrangement of chromosome material

Front 7

Single Gene Mutations

Breast Cancer

Back 7

BRCA1/BRCA2; age of onset 30-70, often under age 50; 5-10% of breast and ovarian cancer

Front 8

Single Gene Mutations

Huntington's Disease

Back 8

Autosomal dominant but age of onset is 35-44
Progressive, degenerative, incurable disease of the nervous system
Involves motor, cognitive and emotional impairment; begins with subtle signs

Front 9

Multifactorial Influences

Back 9

Combination of genetic and environmental factors; assessment is based on family history, personal and medical risk factors and identification of associated diseases or clinical manifestations. Examples - Cleft lip, cleft palate, neural tube defects, pyloric stenoisi, and congenital heart disease.

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Multifactorial Influences

Cardiovascular disease/Heart Disease

Back 10

Can be caused by a single gene mutation and/or gene mutation with environmental factors

Front 11

Multifactorial Influences

Diabetes

Back 11

Not a single disease but "a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both"

Front 12

Multifactorial Influences

Hypertension

Back 12

Assessment based on family Hx, personal and medical risk factors and diseases

Front 13

Turner syndrome

Back 13

The most common sex chromosome deveation in females, is characterized by a chromosoma constitution of 45X; one X chromosome is missing (monosomy X). Affected females usually exhibit juvenile external gentalia, underdeveloped ovaries short stature, and webbing of the neck. Intelligence may be impaired

Front 14

Kleinfelter Syndrome

Back 14

trisomy XXY is the most common sex chromosome deviation. The presence of the extra X chromosome results in poorly developed male secondary sexual characteristics, small testes and infertility. Intelligence may be impaired as well.

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Unifactorial Inheritance

Back 15

A trait or disorder that may be controlled by a single gene. A family pedigree or map of family relationships, is useful for assessing the incidence of inherited disorders

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Autosomal Dominant

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An affected parent who is heterozygous for the trait has a 50% chance of passing the variant allele to each offspring.
Examples
Neurofibramotosis (progressive nerve disorder that causes nerve tumors throughout the body)
Marfan syndrome (connective tissue disorder where child is taller and thinner than normal and has associated heart defects)
Factor V Leiden mutation (increased risk for DVT and pulmonary emboli)
Huntington's Disease
Facioscapulohumeral musculor dystrophy (bones extremely brittle)
Achondroplasia (dwarfism)

Front 17

Autosomal Recessive

Back 17

Both parents must carry the recessive.
25% chance of passing it on to offspring
Some populations may have higher incidence of disorders
Examples
sickle cell anemia
galactosemia
Phenylketonuria PKU
Maple syrup urine disease
Tay sachs disease
Cystic fibrosis