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Doctor insights on: Abnormalities Of Chromosomes

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What are the causes of gene mutations in chromosone 4?

What are the causes of gene mutations in chromosone 4?

Luck: Mutations are usually luck based. Bad luck. Other non-genetic deformities are often genetic or environmental, but can also be bad luck too. ...Read more

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What causes genetic abnormalities in fetus?

What causes genetic abnormalities in fetus?

A few things: Often genetic abnormalities arise spontaneously. Some are due to genetic problems that are passed down in family lines. Some are due to the way the chromosomes from sperm and egg meet and form in an embryo. Lastly, some can be due to exposure radiation which can damage genes. If you're worried that your fetus might have abnormality, you can discuss with geneticist to understand risks. ...Read more

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

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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What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more

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Which type of chromosomal mutation causes down syndrome?

Which type of chromosomal mutation causes down syndrome?

Not mutation,number : Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more

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What chromosome abnormalities are accompanied by coarctation of aorta?

What chromosome abnormalities are accompanied by coarctation of aorta?

See below:: Doctors don't know for sure why certain people are born with coarctaton of the aorta (coa). Coa is fairly common in girls born with turner syndrome, a genetic disorder in which one of a girl's two x chromosomes is incomplete or missing. ...Read more

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List of brain abnormalities in fetus?

List of brain abnormalities in fetus?

Long and serious.: Hydrocephaly, ventriculomegaly, mega-cisterna magna, dandy-walker malformation, inferior vermian hypoplasia, hydranencephaly, schizencephaly, porencephaly, polymicrogyria, neuronal migration anomalies, tubers, vein of galen aneurysm, encephalocele, septo-optic dysplasia, agenesis of the corpus callosum, absence of cavum septum pellucidum, lissencephaly and arnold-chiari malformation. ...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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Where does the duplication of chromosomes occur?

Where does the duplication of chromosomes occur?

In the gamete: Duplication of chromosomes occurs in the gametes. The gametes are the cells responsible for creation of the egg in women or sperm in men. The process is called meiosis. Duplication of chromosomes actually occurs in two separate phases of meiosis. ...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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Dwarfism is caused by the mutation of which chromosome?

Dwarfism is caused by the mutation of which chromosome?

Many types: There are many different types, for example, the most common type is achondroplasia which is on the short arm of chromosome 4. ...Read more

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Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?

Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?

It may, depends: First step is conventional karyotyping, if the clinical suspicion present for Down syndrome, detection of an extra chromosome 21, or triploidy, instead of two. In 95% of Down syndrome it's diagnostic, but If it didn't detect and suspicion still there - next step could be a microarray, which designed to detect submicroscopic abnormalities not detected by regular karyotyping for the rest of 5% D-se ...Read more

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What kinds of abnormalities can grow in the heart of fetus?

What kinds of abnormalities can grow in the heart of fetus?

Several.: In fact, given the complexity of the human cardiovascular system it is not surprising that so many fetal cardiac defects can be seen. The most common defects (vsds) are the most benignm however some rare defects can be severe or lethal. http://texaschildrens.org/locate/doctors/ayres, -nancy/. ...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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What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart , hearing, vision, skeletal, developmental.... ...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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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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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