Question 1

what is karyotyping?

Accepted Answer

Chromosome study: A karyotype is a visual presentation of the chromosomes present in each cell, usually derived from blood lymphocytes.  The cells are grown in tissue culture, then arrested in the stage of separation  (mitosis), then  dropped on a glass slide from about 2 feet, which breaks them open;  a dye is added to make stain them, a photo taken, then arranged into their 23 pairs, then studied for anomalies.

Question 2

what happens if we assume that the vitiligo is generic disorder then can we check if it's a dominant, recesive and carrier etc. using karyotyping.?

Accepted Answer

Autoimmune: Vitiligo is usually considered an autoimmune problem. If you want to find out whether it is genetic, you will need to get a detailed history on family members with this problem.   I am not aware of any genetic markers uncovered thus far. Nonetheless if there has been no history of such a disorder among your immediate family members within 3 generations, genetic study would be meaningless.

Question 3

what is the definition or description of: karyotyping?

Accepted Answer

See below: Karyotyping is a test to examine chromosomes in a sample of cells, which can help identify genetic problems as the cause of a disorder or disease. This test can:
•count the number of chromosomes
•look for structural changes in chromosomes

the test can be performed on almost any tissue, including:
•amniotic fluid
•blood
•bone marrow
•placenta.

Question 4

why heparin blood used in karyotyping?

Accepted Answer

To prevent clotting: This avoids blood cells sticking together.

Question 5

what's my chance to have normal baby if me or my husband have balanced translocation&we already had a ds baby? we didn't do karyotyping yet though

Accepted Answer

Genetic counselor: You need to have a karyotype done before you can determine your risk.  It would be very important for you and your spouse to see a genetic counselor to be able to better understand your risk.

Question 6

what is pku?

Accepted Answer

Phenylketonuria: It is an inherited metabolic disorder which if left untreated causes mental retardation in affected children.  All states have programs to screen newborns for pku as it can be treated with a diet low in phenylalanine, an amino acid.

Question 7

how id pku inherited?

Accepted Answer

Recessive: This means that the abnormal gene has to come from both parents who each have a single gene that makes them a genetic "carrier". This is more likely to occur when the parents are related as e.G 1st cousins. Although legal it is a risky union. We all have a chance of being a carier like this for many diseases. The disease will only occur if spouse has the same gene.

Question 8

what are symptoms of pku?

Accepted Answer

Mental retardation: Infants with the condition often have lighter skin, hair, and eyes than siblings
other symptoms may include: delayed mental and social skills, head size significantly below normal, hyperactivity, jerking movements of the arms or legs, mental retardation, seizures, skin rashes, tremors, unusual positioning of hands.
For additional information consult: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh000.

Question 9

can you develops pku later in life?

Accepted Answer

No: PKU is a genetic disease that you are born with. Newborn screening helps to diagnose this disease and guides the treatment. Having it diagnosed later in life leads to more problems. A special diet low in phenylalanine is the treatment. During pregnancy it is particularly important.

Question 10

how many people have pku in the world?

Accepted Answer

Phenylketonuria-PKU: "Classical PKU affects between 1 in 10,000 and 1 in 20,000 depending on the country of origin. The incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland[3] to fewer than one in 100,000 births among the population of Finland."   from website National PKU Alliance https://npkua.org/Education/About-PKU

Get Virtual Care

For Businesses

About Us

HealthTap Online Primary Care Doctors Accepting New Patients

Doctor answers about:

Karyotype of pku

A member asked:

What is karyotyping?

A member asked:

What happens if we assume that the vitiligo is generic disorder then can we check if it's a dominant, recesive and carrier etc. using karyotyping.?

A member asked:

What is the definition or description of: karyotyping?

A member asked:

Why heparin blood used in karyotyping?

A member asked:

What's my chance to have normal baby if me or my husband have balanced translocation&we already had a ds baby? we didn't do karyotyping yet though

A member asked:

What is pku?

A member asked:

How id pku inherited?

A member asked:

What are symptoms of pku?

A member asked:

Can you develops pku later in life?

A member asked:

How many people have pku in the world?

HealthTap Online Primary Care Doctors Accepting New Patients

Telemedicine

Primary Care

Manage Your Conditions

Women's Health

Children's Health

Men's Health

Senior Health

Wellness, Prevention & Lifestyle

Sexual Health

Mental & Behavioral Health

Travel Medicine

Urgent Care

Didn't find what you're looking for?

More of what we treat

Allergies

Antibiotics

Asthma

High Blood Pressure

Prescriptions

Type 2 Diabetes

For Businesses

Company

Health Content

Join Us

Download HealthTap

Questions?