Doctor insights on:
Chromosomal Abnormality Examples
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
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
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 20s. 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
1in 1000: According to the national institute of health. ...Read more
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
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
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
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.
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
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?
May be: Your obstetrician would be more valuable in discussing those findings and recommend what to do next, take care ...Read more
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
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
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 advise you of intervention if at all needed. ...Read more
Hi, what natural treatments are effective for mds? No chromosomal abnormality, pancytopenia and transfusion dependent (almost every 15-20 days).
Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?
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
THE absolute #1...: 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
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
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
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
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