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Doctor insights on: Chromosomal Abnormalities

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Dr. Jay Nemiro
67 doctors shared insights

Chromosomal Abnormalities (Overview)

A chromosome anomaly, abnormality, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes.


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Babysitter was just told another kid in her care has chromosomal abnormalities. Should we worry?

Babysitter was just told another kid in her care has chromosomal abnormalities. Should we worry?

Chromosomal abnormal: Chromosomal abnormalities are not contagious. They are caused by events around conception of that particular individual. So not to worry. ...Read more

Dr. Jay Nemiro
67 doctors shared insights

Chromosomal Abnormalities (Overview)

A chromosome anomaly, abnormality, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes.


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What are typical symptoms of chromosomal abnormalities?

Usually none: During pregnancy there aren't usually any symptoms of chromosomal abnormalities in the fetus. Of course, miscarriage and stillbirth can be related to a chromosomal abnormality. ...Read more

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Safety of chorionic sampling vs. Amniocentesis for prenatal diagnosis of chromosomal abnormalities?

Safety of chorionic sampling vs. Amniocentesis for prenatal diagnosis of chromosomal abnormalities?

Risks: The risk of pregnancy loss has been looked at in four randomized studies of cvs vs. Amniocentesis. All four studies show that both procedures have about the same risk of pregnancy loss. About 1 in 1600. Another cvs study showed that losses in a group of women who had the procedure were equal to losses in a group of women who didn't have the procedure. A loss may not be related to the procedure. ...Read more

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Does DNA or genes cause chromosomal abnormalities?

Does DNA or genes cause chromosomal abnormalities?

Chromosomal: Chromosomes are the packaging for the genes. Genes are made up of dna. Chromosomal abnormalities are extra chromosomes, deletions, duplications, or translocations of large chunks of dna. ...Read more

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How do people treat chromosomal abnormalities?

How do people treat chromosomal abnormalities?

Chromosomal Abnormal: Chromosomal abnormalities is a broad category. It means there is some gene or genes that are missing or extra. Depending on the particular chromosome affected is the kind of therapy needed. This usually is not something fixed but you can offer modalities to strengthen the weak areas. Usually physical therapy occupational therapy and speech. You work on the problems caused by the abnormality. ...Read more

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Hi, what natural treatments are effective for mds? No chromosomal abnormality, pancytopenia and transfusion dependent (almost every 15-20 days).

Hi, what natural treatments are effective for mds? No chromosomal abnormality, pancytopenia and transfusion dependent (almost every 15-20 days).

None that I know of: Unfortunately there are no natural treatments for cancer. But mds does have a couple of chemo drugs which are relatively mild to use/tolerate. So try those. ...Read more

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What are the top reasons for getting chromosomal abnormalities?

THE absolute #1...: ...Most common chromosome abnormality is trisomy 21, or down's syndrome, and that is associated with advanced maternal age, becoming more common in pregnancies in women over 36. Preexisting abnormalities in parents is close second, toxins and radiation a very distant third, with a large number having no apparent cause. ...Read more

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What exactly is albinism? Is it a genetic or disorder or a chromosomal abnormality?

What exactly is albinism? Is it a genetic or disorder or a chromosomal abnormality?

Biological inheritan: Most forms of albinism are the result of the biological inheritance of genetically recessive alleles (genes) passed from both parents of an individual, though some rare forms are inherited from only one parent. There are other genetic mutations which are proven to be associated with albinism. All alterations, however, lead to changes in melanin production in the body. ...Read more

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What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait

What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait

There : There are several ultrasound findings that can suggest down sysndrome, and echogenic bowel is one of them. There could be other explanations for that finding, though.

It sound like you will need some testing to find out what's going on. The two tests used most commonly are amniocentesis and chorionic villous sampling. Each has its own risks and benefits, so you should discuss them with your obstetrician.

I would suggest that you do this sooner than later, and regardless of whether the outcome might lead you to terminate the pregnancy. ...Read more

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How do people treat chromosomal abnormalities?

Chromosomal Abnormal: Chromosomal abnormalities is a broad category. It means there is some gene or genes that are missing or extra. Depending on the particular chromosome affected is the kind of therapy needed. This usually is not something fixed but you can offer modalities to strengthen the weak areas. Usually physical therapy occupational therapy and speech. You work on the problems caused by the abnormality. ...Read more

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What chromosomal abnormalities only effect males?

What chromosomal abnormalities only effect males?

Males: Well, klinefelter's syndrome caused by an extra x chromosome only affects males. Extra y chromosomes only affect males. ...Read more

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What are typical symptoms of chromosomal abnormalities?

Usually none: During pregnancy there aren't usually any symptoms of chromosomal abnormalities in the fetus. Of course, miscarriage and stillbirth can be related to a chromosomal abnormality. ...Read more

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What are the top reasons for getting chromosomal abnormalities?

THE absolute #1...: ...Most common chromosome abnormality is trisomy 21, or down's syndrome, and that is associated with advanced maternal age, becoming more common in pregnancies in women over 36. Preexisting abnormalities in parents is close second, toxins and radiation a very distant third, with a large number having no apparent cause. ...Read more

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What is the definition or description of: Chromosomal abnormalities?

What is the definition or description of: Chromosomal abnormalities?

Chromosomal abn.: A chromosome anomaly, abnormality, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. ...Read more

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What are some diseases that are the result of chromosomal abnormalities?

What are some diseases that are the result of chromosomal abnormalities?

Aneuploidies.: Down syndrome (trisomy 21 - mongolism), edwards' syndrome (trisomy 18 - lethal), patau syndrome (trisomy 13 - lethal), turner syndrome (monosomy x), digeorge syndrome (microdeletion 22q11 - velocardiofacial syndrome), wolff-hirschhorn, cri-du-chat syndromes, etc. ...Read more

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Are chromosomal abnormalities only confined to certain parts of your body?

Are chromosomal abnormalities only confined to certain parts of your body?

No: The typical chromosomal(chm) defect shows up as abnormal chm in every cell of your body. Some cells do little (skin just sits there) while others do a lot ( form the heart, hands, brain). The need for detail in complex parts means the defect will have more effect. Rare chm defects produce a mosaic, where a fraction of the body has normal & others abnormal. Variable effect. ...Read more

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Are chromosomal abnormalities such as extra ones confined only to certain parts of the body?

Are chromosomal abnormalities such as extra ones confined only to certain parts of the body?

All the same,but: The major abnormalities associated with chromosomal defects do seem to affect some specific body structures more than others.These are often the ones that require a lot of information to form right. The face/hands/heart are example areas where noticeable alterations are seen. Nonetheless, all cell lines in the body will have the same defect. ...Read more

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Babysitter was just told another kid in her care has chromosomal abnormalities. Should we worry?

Chromosomal abnormal: Chromosomal abnormalities are not contagious. They are caused by events around conception of that particular individual. So not to worry. ...Read more

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What are some chromosomal abnormalities that only affect female fetuses?

What are some chromosomal abnormalities that only affect female fetuses?

Female: Turner's syndrome, caused by only 1 x chromosome only affects females. More than two copies of the x chromosome only affects females. ...Read more

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Are chromosomal abnormalities, such as trisomy, confined to certain parts of the body?

Usually: The vast majority of trisomy patients will have the trisomy in every cell of their body. There is a small percentage that will be what is called a mosaic, where the trisomy effects a fraction of the cells. In theory the trisomy starts in one group of cells and continues to all that develop after the change, but another normal line also produces normal tissues. The amount affects the outcome. ...Read more

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Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Yes: Some of the physical signs of edwards syndrome are non-specific, that is, shared by other syndromes, with or without chromosomal abnormalities. No one sign is diagnostic, and several signs could be present in a child with normal chromosomes and without its having edwards syndrome. ...Read more

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What to do if I had 1 egg put back inside me. the other 2 had chromosomal abnormalities. I am scared they got them mixed?

What to do if I had 1 egg put back inside me. the other 2 had chromosomal abnormalities. I am scared they got them mixed?

Anxiety: Labs have many back up systems so things like that don't happen. I don't otherwise know how to allay your anxieties about this. There are no 100% guarantees in life. You can ask your IVF doctor if they can do chorionic villous testing, but this has risk to it, and then you must be willing to live with the findings or be able to decide to end the pregnancy if abnormalities if that is what you want. ...Read more

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What do you advise if i had 1 egg put back inside me. The other 2 had chromosomal abnormalities. I am scared they got them mixed?

What do you advise if i had 1 egg put back inside me. The other 2 had chromosomal abnormalities. I am scared they got them mixed?

Anxiety: Labs have many back up systems so things like that don't happen. I don't otherwise know how to allay your anxieties about this. There are no 100% guarantees in life. You can ask your IVF doctor if they can do chorionic villous testing, but this has risk to it, and then you must be willing to live with the findings or be able to decide to end the pregnancy if abnormalities if that is what you want. ...Read more

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Does DNA or genes cause chromosomal abnormalities?

Chromosomal: Chromosomes are the packaging for the genes. Genes are made up of dna. Chromosomal abnormalities are extra chromosomes, deletions, duplications, or translocations of large chunks of dna. ...Read more

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Safety of chorionic sampling vs. Amniocentesis for prenatal diagnosis of chromosomal abnormalities?

Risks: The risk of pregnancy loss has been looked at in four randomized studies of cvs vs. Amniocentesis. All four studies show that both procedures have about the same risk of pregnancy loss. About 1 in 1600. Another cvs study showed that losses in a group of women who had the procedure were equal to losses in a group of women who didn't have the procedure. A loss may not be related to the procedure. ...Read more

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What can you tell me about genetic testing for chromosomal abnormalities?

What can you tell me about genetic testing for chromosomal abnormalities?

Too complicated: Please go the web address given below for into. One type of common disorder is Down Syndrome.

http://www.genome.gov/11508982 ...Read more

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Can you tell me about the difference between chromosomal abnormalities and single gene disorders?

Can you tell me about the difference between chromosomal abnormalities and single gene disorders?

Generally speaking..: Chromosomal disorders are disorders of entire chromosomes. Remember, we have 23 pairs of chromosomes for 46 total. Downs syndrome is a 3rd copy of chromosome #21 in its entirety. A single gene disorder would be disorders like sickle cell, cystic fibrosis or thalessemia. In which the chromosome looks and is normal, but the gene at that site on the specific chromosome is specific to the disease. ...Read more

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I had my ultrasound and results were. 12w 4d pregnant, crl 61mm, NT 2.4. my concern is does my NT means my baby hav a chromosomal abnormalities. Thank?

I had my ultrasound and results were. 12w 4d pregnant, crl 61mm, NT 2.4. my concern is does my NT means my baby hav a chromosomal abnormalities. Thank?

Testing: The NT test can be used as one component of prenatal testing. First trimester genetic screening can be done or cell free DNA testing can be done. We do not make a diagnosis from the NT test alone ...Read more