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Doctor insights on: Jacobs Syndrome Chromosomal Abnormality

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Dr. Jay Nemiro
67 doctors shared insights

Chromosomal Abnormalities (Definition)

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 ...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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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 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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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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What is the main cause of chromosomal abnormality in fetus?

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

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What is the difference between a mutation and a chromosomal abnormality?

What is the difference between a mutation and a chromosomal abnormality?

Size.: Mutations are strategically placed minute changes in dna that change the message encoded in it to produce abnormal proteins and pathological symptoms. Chromosomal abnormalities (e.g. Down syndrome), are larger changes in the number of dna packages (chromosomes) each cell carries, so that many organ systems malfunction (brain, heart, bone marrow, etc). ...Read more

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Is osteogenesis imperfecta considered a chromosomal abnormality?

Is osteogenesis imperfecta considered a chromosomal abnormality?

No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type i collagen. It is not a chromosomal anomaly. ...Read more

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

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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Mc in 1st trim,may b because of mismatch chromosome or chromosomal abnormality,means chances of next child 2 b born with chromosomal defects r more?

Mc in 1st trim,may b because of mismatch chromosome or chromosomal abnormality,means chances of next child 2 b born with chromosomal defects r more?

Not on the internet: That specific question cannot possibly be answered on the internet. You need a geneticist to do the right tests and provide you with a competent consolation or evaluation. ...Read more

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Hi, i'm born in a family of 4 grown up boys. How is it that I am the only one having chromosomal abnormality leading to azoospermia?The rest are fine.

No reason: Most of chromosomal abnormalities do not follow a specific pattern. Specific gene transfers to next generations follow darwin's proposed laws. But chromosomes don't follow those laws. They can be very sporadic. However they seem to be affected by parents' age. ...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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On 7&half we TVS shows 2 yolk sac, one with cardiac activity, other is empty. CRL is 1.13 cm. is possibility of chromosomal abnormality ?

On 7&half we TVS shows 2 yolk sac, one with cardiac activity, other is empty. CRL is 1.13 cm. is possibility of chromosomal abnormality ?

Always possible: The transvaginal ultrasound at 7.5 weeks does not rule in or out a chromosomal abnormality. It is believed that there are a lot more twins conceived than born and one twin just dies very early and this may be the cause of some first trimester bleeding. Only with early ultrasounds are we finding these 'vanishing twins'. This may be the case with your empty yolk sac. The other twin is usually normal ...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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Is a small gestational sac in relation to the fetus a sign of a chromosomal abnormality. Fetus 9w sac 7w. Doctor and research have me very worried.

Hard to answer...: At such an early stage, imaging and interpretation is hard. There are associations between size and abnormalities. But it is impossible to look at a minimally smaller size and conclude anything, especially chromosomal disorders. It is best not to worry, but follow this serially and monitor progress. Your OB is the best judge of this and should advice you of intervention if at all needed. ...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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Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?

Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?

Possibly: Healthy and viable pregnancies usually double the value of the HCG hormone every 48 hours. There are many tests that are used now to predict and/or define fetuses with chromosomal abnormalities. Because of your age these tests should be offered and considered. ...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