Pathophysiology Chapter 21

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How many autosomes do humans have?

22 pairs

How many pairs of chromosomes are in humans?

23 pairs, 46 total

What is Klinefelter syndrome?

47, XXY

what causes a translocation mutation?

A piece of one chromosome breaks off and attached to another chromosome

What is gene therapy?

A possible way to fix a genetic problem

What is genetic testing?

A test to diagnose a condition in an individual based on family history and symptoms

What are some autosomal-dominant disorders?

Adult polycystic kidney disease Huntington chorea Familial hypercholesterolemia Marfan syndrome

What is a teratogenic agent?

Agent that causes damage during fetal development

Name drug and chemical teratogens?

Alcohol Androgen hormones Coumadin anticoagulants lead tetracyclines mercury

What are some blood tests of pregnant women?

Alpha-fetoprotein HCG Unconjugated estriol

What screening procedure is used to confirm down syndrome?

Amniocentesis

What are the in-utero diagnostic tools for testing?

Amniocentesis and chorionic villi assay

What is Hemophilia A?

An X-linked recessive disorder that causes patients to bleed due to a defect in blood clotting

What is TORCH?

An acronym for maternal infections that can cause anomalies

Characteristic of X-linked recessive disorders

An allele carried on the X chromosome but not the Y

What is Phenylketonuria (PKU)?

An autosomal disorder that the amino acid phenylalanine is unconverted, causing neurological damage

What is Tay-Sachs disease?

An autosomal recessive disorder that is caused by a build-up of lipids in the brain that impede nervous function

What is Marfan syndrome?

An autosomal-dominant disorder that affects the body's connective tissues

What is adult polycystic kidney disease?

An autosomal-dominant disorder that causes cysts in your kidneys, and your kidney enlarges and loses function

What is Huntington chorea?

An autosomal-dominant disorder that causes the degeneration of nerve cells in the brain

what is cystic fibrosis?

An autosomal-recessive disorder of the cell membranes. Causes thick, sticky mucus to build up in air passages and pancreas.

What are some multifactorial disorders?

Anencephaly Cleft lip and palate clubfoot congenital heart disease Myelomeningocele schizophrenia

Inheritance of one allele causes these disorders

Autosomal dominant disorders

What inheritance patterns are single-gene disorders classified by?

Autosomal-recessive Autosomal-dominant X-linked recessive X-linked dominant

What is a multifactorial disorder?

Caused by a combination of environmental factors and mutations in multiple genes

A type of duplication mutation

Charcot-Marie-Tooth, part of chr 17 duplicated

What are some X-linked recessive disorders?

Color blindness Duchenne muscular dystrophy Hemophilia A

Name some physical agent teratogens

Hyperthermia high-dose ionizing radiation

A type of deletion mutation

Cri-du-chat

What are some autosomal-recessive disorders?

Cystic fibrosis Phenylketonuria sickle cell anemia tay-sachs disease

Name some teratogens that are infectious agents.

Cytomegalovirus Rubella Toxoplasma gondii Varicella

What are the 4 main type of structural chromosomal disorders

Deletion Duplication Inversion Translocation

How is chromosomal defect caused?

Error during meiosis deletion, duplication, inversion and translocation

What are some neonatal tests?

Excreted metabolites (PKU) Blood testing

Females and males are affected the same with fragile X syndrome.

False. Girls get it less often

What is an example of an X-linked dominant disorder?

Fragile X syndrome

All cells have the same genotype except for what cells?

Gametes or sex chromosomes

What is the ultimate goal for genetic engineering?

Insert normally functioning allele to prevent disease

What medications and vaccines are products of genetic engineering?

Insulin HGH Hep B vaccine

What is Genetic engineering?

Isolating, copying, transplanting genes

Classifications of chromosomal disorders

Numerical or structural

What is Turner syndrome?

Occurs in females when they only have one X chromosome. Monosomy X

What is genetic screening?

Offered to populations at an increased risk but have no symptoms

Monosomies

Only one side of the pair of the chromosome is present.

Who is testing recommended for?

Patients with a family history Previous birth to a child with an abnormality Certain ethnic groups Pregnant women >35

what is an incomplete dominant?

People who are heterozygous for an autosomal recessive disorder but show some clinical signs

What does down syndrome affect?

Physical and mental development

When can you do diagnostic testing?

Prior to conception During first trimester In a newborn

How may inherited disorders be caused?

Single-gene expression chromosomal defect multifactorial disorders

Characteristics of down syndrome

Small head, round face slanted eyes large tongue small hands short stature loose joints (hypotonic) Delayed developmental stages cognitive impairment delayed or incomplete sexual development

What does TORCH stand for?

T: *toxoplasmosis* O: *other parvo- b 19, varicella zoster* R: *rubella* C: *cytomegalovirus* H: *herpes*

Trisomies

The copies of the chromosome

What is single-gene expression?

Trait controlled by one set of alleles and given to subsequent generations

What is used to screen for down syndrome?

Triple or quad screening tests (ultrasound and blood tests?

Edwards syndrome

Trisomy 18

Women can have x linked recessive disorders

True. However they are usually just carriers

If a parent is homozygous for an autosomal recessive disorder, they are

affected

What is a delayed lethal genotype?

allele for disorder may have been passed on to next generation before diagnosis of disease in parent

What is sickle cell anemia?

an autosomal-recessive disorder that causes a problem making the hemoglobin of the red blood cells., A genetic disorder causing red blood cells to be rod/sickle shaped. This causes them to get stuck in capillaries and the bodies cells become deprived of oxygen

Term for heterozygous and unaffected

carrier

What chromosome is usually affected with an inversion mutation

chromosome 2, typically asymptomatic

Characteristics of fragile x syndrome

cognitive deficit learning disorders prominent lower jaw macroorchidism large ears

What is a congenital disorder?

disorder present at birth

Most common cause of mental retardation in the US

fragile x syndrome

What is a genotype?

genetic makeup of an organism

What is a karyotype used for?

identify chromosomal abnormalities

Risk of down syndrome increases with what?

maternal age

What is an autosome?

non-sex chromosome

define phenotype

physical appearance, the expression of your genes

Define karyotype

picture of all the chromosomes of an organism

Another way that congenital disorders may occur

premature birth or difficulties during labor and delivery

Characteristics of Turner syndrome

short stature, webbed neck, lack of ovarian development

What is myelomeningocele?

the most common and serious form of spina bifida in which the bones of the spine do not completely form, resulting in an incomplete spinal canal, causing the spinal cord and meninges to stick out of the childs back

Down syndrome is also known as

trisomy 21; 3 copies of chromosome 21


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