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Doctor insights on: Karyotyping

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Dr. Wareef Kabbani
836 doctors shared insights

Karyotyping (Overview)

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.


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I want to know what's the karyotype of rett syndrome?

I want to know what's the karyotype of rett syndrome?

Genetics: Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the x-linked mecp2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal x-chromosome. For more info, consult with a geneticist. ...Read more

Dr. Wareef Kabbani
836 doctors shared insights

Karyotyping (Overview)

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.


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How could the karyotyping results be explained ?

How could the karyotyping results be explained ?

Need more info: Not sure of your question. Do you have a specific finding you would like explained? ...Read more

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3 miscarriages. Fetal karyotyping normal. D&c revealed uterine septum, but have healthy 7 y/0. What tests should i/we have next? $ is an issue.

3 miscarriages. Fetal karyotyping normal. D&c revealed uterine septum, but have healthy 7 y/0. What tests should i/we have next? $ is an issue.

Depends on you: To some extent you already have a good deal of information.You know that you can carry a baby to a healthy delivery. You also know you have a structural uterine defect that may cause a miscarriage. I'm not aware if they could reduce or remove your septum, or if such surgery would help.That may be a reasonable thing to discuss with your doc. ...Read more

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How could the karyotyping results be explained ?

Need more info: Not sure of your question. Do you have a specific finding you would like explained? ...Read more

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What is the definition or description of: karyotyping?

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 marrowplacenta. ...Read more

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What procedures are used in preparation for karyotyping?

One sample at a time: A blood sample is spun down and the white cells are separated into at least 3 tissue culture media sets. An amnio sample is spun down, the cells resuspended and divided into three tissue culture sets. Of primary importance: only one sample is ever set up at a time. No other sample is near another until the cultures have been completely set up and labeled. That prevents mixing up two babies by mistake ...Read more

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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.?

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.?

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. ...Read more

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Karyotyping - is it done to check all pregnant women over age 35years?

Not always: The decision to do an amniocentesis in order to do karyotyping is a personal decision and carries up to a 1 in 200 miscarriage rate. The information obtained would classically be used to decide upon termination or not as there is no treatable or correctable chromosome abnormality. At 35 years old and above, the risk of a chromosome defect is 1 in 200 or greater. ...Read more

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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

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

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. ...Read more