Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short. The doctor tells her parents she has an inherited disorder. If you were the doctor what would you diagnosis Kate with? Discuss the etiology of Kate’s disorder? What is the biggest risk factor for this disorder? How can or will this disorder affect Kate? What test could have been completed to diagnosis this disorder before Kate’s birth?

Answers

Answer 1

Answer:

- These morphological features belong to Down syndrome.

- Diagnosis: Down syndrome (Trisomy Extra chromosome 21).

- Etiology: the presence of three copies of the autosomal chromosome 21 instead of two copies in body (somatic) cells.

- Most important health problem: Down syndrome increases the risk of developing Alzheimer's disease (other health problems include heart congenital defects, vision problems, hearing loss, hypothyroidism)

- Diagnostic test: Amniocentesis

Explanation:

Down syndrome (DS) is the most frequent chromosomal abnormality which is generally caused by the presence of an extra copy of autosomal chromosome 21, thereby it is an autosomal trisomy (trisomy 21). DS is often associated with intellectual disability and increased risk of developing Alzheimer's, as well as health problems including, among others, heart congenital defects, vision problems, hypothyroidism, blood disorders, hypotonia, endocrine problems, dental problems, seizures, etc. Amniocentesis is the most common invasive prenatal diagnostic procedure which is used to identify chromosomal abnormalities such as trisomy 21 (Down syndrome). Amniocentesis is done between 15 weeks and 20 weeks of pregnancy.


Related Questions

What process allows a single cell to grow into a multi-cellular organism?

Answers

Answer:

Mitosis

Explanation:

Mitosis is a process where a single cell divides into two identical daughter cells (cell division).  As a cell constantly splits and the daughter cells constantly splits, it eventually creates a multi-cellular organism!

the answer is mitosis

Recall that the frequencies of the two alleles in this population can be represented by p and q, and they can be used to predict the genotype frequencies of the next generation. In this case, the frequency of the T allele (calculated in question 4 above) is equal to p, and the frequency of the t allele (calculated in question 5 above) is equal to q. Drag the numbers on the left to the appropriate blanks on the right to answer these questions. Answers can be used once, more than once, or not at all.

Answers

Answer:

hii check this

Explanation:

A paragraph is a series of related sentences developing a central idea, called the topic. Try to think about paragraphs in terms of thematic unity: a paragraph is a sentence or a group of sentences that supports one central, unified idea.

Dehydration synthesis leads to ?

Answers

Explanation:

Dehydration synthesis leads to the formation of water..

Answer:

Dehydration synthesis is the process of joining two molecules, or compounds, together following the removal of water. During a condensation reaction, two molecules are condensed and water is lost to form a large molecule.

Explanation:

Hope this helps.

Describe the process of aerobic respiration.​

Answers

Answer:

Explanation:

Aerobic respiration is the process of producing cellular energy involving oxygen. Cells break down food in the mitochondria in a long, multistep process that produces roughly 36 ATP. ... Aerobic respiration is the process of breaking down the food that comes into a cell using oxygen to help power that process.

Selecting resources with reliable credentials and expertise is _____________________________.
A. important for scientific research only
B. important for any information you look up, on any topic
C. not important, everyone’s ideas are equally valid
D. only important when you are looking for medical advice

Answers

Answer:

B. important for any information you look up, on any topic

Explanation:

You want reliable information whenever you are trying to understand something that is unknown to you (not just when you are doing research or need medical advice), and you get reliable information from people with the right credentials and expertise on the given matter.

3. Which of the following represents correctly paired nitrogen bases? (a) Adenine- Cytosine; (b) Cytosine-Thymine; (c) Guanine-Thymine; (d) Guanine-Cytosine.

Answers

Answer: The option that correctly represents paired nitrogen bases is D ( Guanine-Cytosine)

Explanation:

Deoxyribonucleic acid( DNA) is found in chromosomes which are located in the nucleus of cells. One of its main functions is to store the organism's hereditary traits and direct the day to day metabolic activities of each cell in the organism.

The DNA molecule consists of two strands that curve spirally to form a double helix structure which consists of:

--> phosphate,

--> A sugar called deoxyribose, and

--> Four nitrogenous bases—adenine, guanine, cytosine, and thymine

The four different NITROGEN BASES pair together in a way known as complementary pairing. ADENINE always pairs with THYMINE, and CYTOSINE always pairs with GUANINE.This is because of their molecular structures. Each base contains one or two nitrogen rings, which makes it long or short. It also has a sticky end of binding sites that connects with exactly one other base.

--> Adenine is long and has two binding sites.

--> Thymine is short and has two binding sites.

--> Guanine is long and has three binding sites.

--> Cytosine is short and has three binding sites.

From the above analysis, GUANINE can only bind to CYTOSINE.

Hello ! I need to make on Poetry about the snake to make everything what I know about him , means were it lives , what his ears , what is look like , different colour,there is venomous,etc , some on can help me please? Thank you

Answers

Answer:

try to explain a little more of exactly what you need. a poem about a snake am I correct?

1. Deciduous trees lose their leaves seasonally and include trees such as cedar and maple.

a. True
b. False

2. Hardwoods reproduce using flowers and have broad leaves; hardwoods include trees such as mango, elm, and pine.
a. True
b. False

3. Conifer leaves are generally thin and needle-like, while seeds are contained in cones. Conifers include pine and elm.
a. True
b. False

4. Evergreens are plants that maintain their leaves in all seasons and include trees such as cedar, mango, and pine.'
a. True
b. False

Answers

1.True
2.True
3.False
4.False
Are the answers to this questions

What is the energy source used for muscle contraction?

Answers

ATP- Adenosine triphosphate

Which of the following are differences between DNA and RNA? Mark all that apply.

a- DNA nucleotides include: Adenine, Cytosine, Guanine and Thymine
b- RNA nucleotides include: Adenine, Cytosine, Guanine and Uracil
c- DNA normally exists as double stranded
d- RNA normally exists as single stranded
e- RNA normally exists as double stranded
f- DNA normally exists as single stranded
g- The sugar in DNA is a ribose
h- The sugar in RNA is a deoxyribose

Answers

Answer:

The correct answer is - a, b, c, d, g and h.

Explanation:

DNA and RNA both are nucleic acids and have considered genetic materials. There are certain difference in these molecules such as-

Different sugars present in the nucleotide, Deoxyribose sugar in DNA and ribose sugar in RNA.

There are different nitrogenous bases also present as RNA has uracil instead of thymine.

DNA normally found in double-stranded while RNA exists in single-stranded.

Which genetic locus is not used for calculating the rarity of a DNA profile?
Question 25 options:

1)

TPOX

2)

FGA

3)

D3S1358

4)

vWA

5)

Amelogenin

Answers

Answer:

TOPX

Explanation:

Which best describes adenosine triphosphate (ATP)?
A waste product molecule that is produced by cells but cannot be used by them.
A high energy molecule that is used by every cell in the body as an energy carrier.
A process that is used to create energy when oxygen is available to the body.
A process that is used to create energy when oxygen is not available to the body.

Answers

Answer:

a high-energy molecule that is used by every cell in the body as an energy carrier.

Answer:

A high energy molecule that is used by every cell in the body as an energy carrier.

Explanation:

Adenosine triphosphate, also known as the "energy currency" of the cell is an organic molecule that readily supplies energy to the cells to carry out metabolic and catabolic functions. This molecule consists of a nitrogenous base known as adenine, ribose sugar, and three phosphate molecules. The hydrolysis of ATP provides energy for muscle contraction, nerve impulses, signaling for hereditary materials like DNA and RNA, as well as phosphorylation.

Plant and animal cells are complex and contain many structures.

a. True
b. False

Answers

Answer:

false ig because animal cell is not complex(i am not sure)

what energy source does the nervous system prefer

Answers

Answer:

NIH

Explanation:

It's a primary energy required

Your bicycle has the mass of 9 Kg , you accelerate at the rate of 2 m/s2 . calculate the net force that is accelerating the bicycle. ( use the formula a= F/m) please this is urgent

Answers

Answer:

18kgm/s2

Explanation:

a=f/m

f=a.m

2m/s2 . 9kg

18kgm/s2

Which of the following is the main purpose of using an anchored network of booms which funnel debris to a collection area?
Keeping birds from being tangled in fishing line
Providing habitat for lobsters
Reducing overall bycatch from drift netting
Removing floating plastic from the water

Answers

Answer:

I believe the answer is 4.

Explanation:

While not an expert on such things, I can draw a conclusion from context clues that the netting would only be used to capture the severe amount of trash found in the ocean.

I need this help! Please!

Answers

8. Is C. a phospholipid. Only one

A tool that helps in checking for the accuracy of the primers ​

Answers

Explanation:

i think 'Primer-blast' can

Determine the new concentration, in mg/mL, of the starch solution you diluted in the Erlenmeyer flask. Recall from the Procedures that there are 20 mg/mL of starch in the 2% solution. Use that to determine the milligrams of starch in the diluted starch solution. Then, divide the milligrams of starch by the total volume of the solution, which includes the water plus the starch solution. Record your results for use in future questions.
a. 2 mg/mL
b. 0.05 mg/mL
c. 0.2 mg/mL
d. 10 mg/mL

Answers

Answer:

0.05 mg/mL  ( B )

Explanation:

Given data:

20 mg/ml starch

2% solution = 2g of solute is in 100g of solvent

Determine the new concentration in mg/ml

Dilution equation = C1V1 = C2V2

new concentration ; applying the dilution factor

dilution factor = 1 : 400 ; ( 2 /400 )g = 0.005 g of solute is present in every  100 mL

∴ new concentration = 0.00005 g / 1 mL * ( 1000 mg / 1g ) = 0.05 mg/mL

What would you say is the most significant result of the technology revolution in archaeology ?

Answers

Answer:

Improvement of preservation techniques.

Explanation:

The most significant result of the technology revolution in archaeology is the improvement of preservation techniques used for archaeological sites. Modern technology also allows researchers to go to a site in order to find out  the answers of additional questions. Modern archaeologists are fighting climate change, discovering how cultures evolved with the passage of time, and using technology to better understand human evolution.

During conjunction the genetic material will be transferred through

a. Capsule
b. Cell wall
c. Pili
d. Medium​

Answers

Answer:

d.

Explanation:

During conjunction the genetic material will be transferred through pilli.

What is conjugation?

During bacterial conjugation, genetic material is transferred from one bacterial cell to another through a structure called a pilus (plural: pili). Pili are thin, hair-like projections that extend from the surface of the bacterial cell and are used for a variety of purposes, including adherence to surfaces and transfer of genetic material. When two bacterial cells are in close proximity to one another, one of the cells can extend a pilus towards the other cell.

The pilus will then make contact with the recipient cell and transfer a small piece of DNA, known as a plasmid, across the intercellular space. This process allows bacteria to exchange genetic material, which can lead to the acquisition of new traits and the spread of antibiotic resistance. Capsules, cell walls, and the surrounding medium are not involved in the transfer of genetic material during bacterial conjugation.

Learn more about conjugation, here:

https://brainly.com/question/4736294

#SPJ2

What is the difference between the rough and smooth endoplasmic reticulum?

Answers

Answer & Explanation:

The most basic difference between RER and SER is the presence of ribosomes. When ribosomes attach to the surface of an ER, it gives a characteristic rough appearance; hence it is called Rough ER. On the other hand, a smooth ER does not have ribosomes on its surface. It possesses ribosomes attached to its membrane.

RER Has ribosomes lining it, SER does not

What term best describes the role of the duck?
O carnivore
O producer
O herbivore
O ominvore

Answers

Answer:

omnivores

Explanation:

Ducks are omnivores. Ducks are waterfowl, and like other waterfowl, they eat both plant and animal matter

The term “trisomy” means

A there are 3 sets of chromosomes.

B there are 3 of the same chromosome.

C there are 3 genes on the chromosome.
Help ASAP

Answers

Answer:

B

Explanation:

trisomy means there are 3 of the same chromosome

Bye :-)

Thụ thể nào liên kết với một phân tử ngoài màng tế bào, hoạt hoá một protein kinase bên trong tế bào?

Answers

Answer:

?

Explanation:

Can someone pls do my biology edgunuity I’ll
Pay you

Answers

I’ll do it how much ?

Answer true or false.

1._____The central nervous system consists of the brain, spinal cord, and nerves.

2._____The autonomic system is part of the nervous system that controls involuntary
actions in the body.

3._____A fish has a more highly developed brain than an ape.

4.______The spinal cord is part of the respiratory system.

5._____The three main parts of the brain in vertebrates are the cerebrum, the
cerebellum, and the brain stem.​

Answers

Answer:

1. False

2. -----

3. False

4. False

5. True

I'm not sure of the 2nd question

Hope it helps:)

Answers:
1. True
2. True
3. False
4. False
5. True

Explanation:
1. This is true.
2. This is true.
3. Apes are highly intelligent creatures will have more brain development than fish.
4. The spinal cord is a part of the nervous system, which is responsible for signaling things. Whereas the respiratory system is responsible for supplying the body with oxygen.
5. This is true.

Describe sea turtle populations during the late 1400’s

Answers

Answer:

6.5 million sea turtles

Recent estimates show us that there are nearly 6.5 million sea turtles left in the wild with very different numbers for each species, e.g. population estimates for the critically endangered hawksbill turtle range from 83,000 to possibly only 57,000 individuals left worldwide.

Explanation:

hope it helps you

 

porfavor especifica que quieres que te diga

Explanation:

Carboxyl phosphate (aka carbonyl phosphate) is the substrate that reacts with biotin to form the carboxylated biotin intermediate.

a. True
b. Fals

Answers

Answer:

TRUE ( A )

Explanation:

Biotin is a coenzyme that reacts with carboxylase enzymes like Carboxyl phosphate in the formation of carboxylated biotin intermediate

Biotin is also an important for sensitive metabolic pathways ( example ; fatty acid synthesis and amino acid catabolism )

How is the nitrogen cycle important to humans?
O It produces free nitrogen that humans can breathe.
O It converts nitrogen into a form that humans can obtain by eating other organisms.
o It produces nitrogen compounds that humang can breathe.
O It converts nitrogen into a form that humans can obtain by absorbing it through their skin.

Answers

Answer:

It converts nitrogen into a form that humans can obtain by eating other organisms.

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