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Doctor insights on: What Sort Of Disease Is A Chromosomal Abnormality

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What sort of disease is a chromosomal abnormality?

What sort of disease is a chromosomal abnormality?

Genetic: Chromosomal abnormalities can include extra or missing chromosomes. I will refer this to experts in medical genetics for more information. ...Read more

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Dr. Jay Nemiro
67 doctors shared insights

Chromosomal Abnormalities (Definition)

Chromosomal abnormalities are conditions caused by an abnormal structure or number of chromosomes, leading to an abnormal expression of genetic material. Common abnormalities include Down Syndrome (Trisomy ...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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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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Help! is multiple sclerosis a result of single or multiple gene disorder or a chromosomal abnormality?

Help! is multiple sclerosis a result of single or multiple gene disorder or a chromosomal abnormality?

Not genetic mostly: There are no signs that multiple sclerosis is a sign of a chromosome disorder. Although there is likely a genetic component, this appears to be a very small role. This is not the type of disease where if you have the gene, you get the disease. It tends to be sporadic. It is an auto-immune disease where antibodies attack the white matter of the brain and/or spinal cord. ...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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Can you please say something about Chromosomal Abnormality?

Can you please say something about Chromosomal Abnormality?

Bad news: This material is the library of information the fetus needs to develop organs and metabolic systems.Too much or too little means something will go wrong. Since many defects are relatively unique, the outcome may or may not be predictable. Some will trigger spontaneous miscarriage. Some are born and live a long life but have many problems along the way. ...Read more

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What's the most common chromosomal abnormality syndrome in humans?

What's the most common chromosomal abnormality syndrome in humans?

Down syndrome.: The most common chromosomal abnormality in a newborn population was trisomy 21 (down), with an incidence of 1 in 730 live births. Abnormalities of the sex chromosomes (eg, monosomy x or turner, xxy, xyy, xxx) and structural balanced rearrangements also occurred frequently. Trisomy 16 is the most common aneuploidy in abortuses. Trisomy 18 (edwards), and 13 (patau) are most common in stillborns. ...Read more

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Is it true that the chances of having a child with a chromosomal abnormality increases as a womans age increases over 40 year?

Yes: It actually increases to a small degree with every year after peak fertility in the mid 20's. At 40 the risk of a trisomy 21 down syndrome reaches 1% while at 45 it reaches 2%. This number is added to the random risk of 4% that any pregnancy has of an unexpected event (cleft palate, premi, other defect). ...Read more

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What is the main cause of chromosomal abnormality in fetus?

Defect in gamete: Either the egg (usually) or sperm carries an extra chromosome (chm) to conception.The fetus ends up with 3 of that chm along with normal pairs of all the others. The third chm will cause a disruption in the code reading that goes into making the organs and brain. The newborn will be born with these defects. ...Read more