Doctor insights on:
Abnormalities Of Chromosomes
Can be either: Genetic defects responsible for disorders can be on any chromosome. ...Read more
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
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
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
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
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
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
I have choroid plexus cysts. Will this increase chance of chromosome x/y or autosomal or translocation abnormalities in fetal development of my baby?
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
- Talk to a doctor live online for free
- Chromosome abnormalities and miscarriage
- Fetal chromosomal abnormalities
- Prenatal testing for chromosomal abnormalities
- Ask a doctor a question free online
- Chromosomal abnormalities treatment
- Chromosomal abnormalities that cause miscarriages
- What is chromosomal abnormalities?
- Blood test for chromosomal abnormalities
- Talk to a clinical geneticist online for free