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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