Genetics (Week 4) Flashcards by Nicole Venditti

of chromosomes in a normal human?

46 individual or 23 pairs

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of autosomes?

22 pairs

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of allsomes?

1 pair (#23)

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The units of heredity?

genes

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4 proteins that make up genes?

adenine (A)
guanine (G)
thymine (T)
cytosine (C)

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Down syndrome is an example of what kind of genetic disorder?

Addition of an entire chromosome

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Turner’s syndrome is an example of what kind of genetic disorder?

Deletion of an entire chromosome

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Tay Sachs is an example of what kind of genetic disorder??

autosomal recessive

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Duchenne is an example of what kind of genetic disorder??

x-linked

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Mitochondrial disorders are examples of what kind of genetic disorder?

x-linked

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Williams syndrome is an example of what kind of genetic disorder?

micro deletion of multiple genes within a chromosome

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3 types of down syndrome?

trisomy
translocation
mosaicism

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What is Mosaicism?

mild form of down syndrome; only on some chromosomes

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What is translocation?

a form of down syndrome in which a portion of chromosome 21 breaks off and goes elsewhere

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What differentiates turner’s syndromes?

only in females

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This syndrome occurs when there is only 1 copy of sex chromosomes?

Turners syndrome

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short stature, broad chest, webbed neck, low hairline, extra skin at the nape of the neck, and shortening of the 4th and 5th metacarpals are all characteristic of?

Turner’s syndrome

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Cubital valgus position is commonly seen in?

Turner’s syndrome

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True or False: hearing problems are commonly seen in turners syndrome?

True

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Cri-du-chat syndrome is a common example of what kind of genetic disorder?

a partial chromosomal deletion of chromosome 5

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a high pitched cat cry is commonly seen in?

cri-du-chat

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Microcephaly/micrognathia, wide slanted eyes, low set eyes, simian hands, and hypotonia are all characteristic of what genetic disorder?

Cri-du-chat

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What genetic disorder comes from a micro-deletion of chromosome 7?

William’s syndrome

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What genetic disorder is characterized by full lips and cheeks, small chin, star like pattern in the iris, and colic/irritable?

Williams syndrome

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What genetic disorder is characterized by an extremely friendly and talkative demeanor but extremely sensitive (both in personality and hearing) as well?

Williams syndrome

What genetic disorder is characterized by hypercalcemia?

Williams syndrome

Pediatric cystic fibrosis is an example of what kind of genetic disorder?

autosomal recessive

What is cystic fibrosis?

It is a chronic/progressive disorder affecting the exocrine gland (secrete into ducts)

what systems are effected by cystic fibrosis (3)?

respiratory, GI, and reproductive

What is meconium ileus and what is it most commonly seen in? Why is it bad?

It is when the first bowel movement an infant has is particularly sticky and thick - commonly seen in cystic fibrosis - it is bad because it creates an obstruction in the ileum causing an infant to have issues with absorbing vitamins A, E, D, and K

Salty sweat and salty kisses is common in what genetic disorder?

Cystic fibrosis

Genetic and sweat chloride tests are commonly used to test for this genetic disorder?

Cystic fibrosis

True or false: With autosomal dominant disorders, the child will be a "carrier" for the disorder

False; either you have it or you don't

Neurofibromatosis is an example of what kind of genetic disorder?

Autosomal dominant

A mutation on the NF1 gene on chromosome 17 results in?

Neurofibromatosis

Cafe-au-lait spots, freckling in the groin and armpits, glaucoma, brown bumps on the iris of the eye are all characteristic of what disorder?

Neurofibromatosis

What are tumors that grow along the nerve?

neurofibromas

Hemophilia is what kind of genetic disorder?

x linked

Albinism is what kind of genetic disorder?

x linked

Color blindness is what kind of genetic disorder?

x linked

Baldness is what kind of genetic disorder?

x linked

True or False: Mitochondrial disorders affect the mother?

False; they dont affect the mother

What does mitochondria do?

it is the energy/powerhouse of the cell

What 3 areas of the body does mitochondria have major influence on?

Nerve, cerebellum, and muscles

Eye muscle weakness, cardiomyopathy, myopathy, lack of coordination, hearin/vision deficitis, adrenal deficits, etc. are all characteristic of what genetic disorder?

A mitochondrial disorder

Chemical reactions in the body that convert or use energy to maintain life?

metabolism

2 types of metabolism?

1. catabolism: the breakdown of larger molecules to produce energy 2. anabolism: the synthesis of larger molecules for growth

2 ways in which metabolic disorders can disrupt the body?

1. the accumulation of abnormal substances | 2. the abnormal functioning of enzymes/proteins

Common complications with metabolic disorders (2)?

1. intellectual disability | 2. death

3 types of metabolic disorders?

1. SILENT (TYPE 1)- hormone or AA abnormalities - Ex. PKU 2. ACUTE TOXICITY- AA, Carbs, OA, FA metabolism Ex. Urea cycle disorder or organic acidemia 3. Progressive Neurological Deterioration-peroxisomal and lysosomal disorder Ex. Tay Sachs

What is Progressive Neurological Deterioration?

a metabolic disorder in which the peroxisomal and lysosome aren't functioning properly leading to an accumulation of "junk" -begins in utero and progresses throughout life

This genetic disorder occurs when there is a HEXA gene on chromosome 15?

Tay Sach's disease

Why does Tay Sach's disease occur?

absence of a chemical that metabolizes toxic chemicals that act on nerve cells

4 populations that tay sach's disease has a high incidence in?

1. Jewish 2. Cajun 3. French Canadian 4. Older Amish

This disease is characterized by muscle weakness/ataxia, deafness and blindness, seizures, increased startle response, and a red spot in the macula of the eye?

Tay Sach's Disease

Having a red spot on the macula of the eye is characteristic of which genetic disorder?

Tay Sach's Disease

This type of care allows for children to grow and develop with a serious illness by providing support to manage, prevent, and treat symptoms and side effects?

Pediatric Palliative Care

This genetic disorder occurs because of a deficiency in the PAH enzyme?

PKU

PKU is an example of what kind of genetic disorder?

an autosomal deficiency (metabolic error)

PKU is common in what population?

Caucasians of European decent

2 methods that are used to diagnose PKU?

1. Serum testing | 2. Urine test

This genetic disorder is characterized by a loss of interest in food and activity along with a musty odor early in life?

PKU

These 2 features are common in people with PKU?

Blonde hair | Pale skin

What type of diet would you prescribe to an individual with PKU?

low protein supplemented with amino acids

Personality disorder that is commonly seen with untreated PKU?

Schizophrenia

Genetics (Week 4) Flashcards

(65 cards)