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Can Marfan Syndrome be detected before birth?
Yes, Marfan Syndrome can be detected before birth through prenatal genetic testing such as chorionic villus sampling or amniocentesis. These tests can detect whether the fetus has inherited the genetic mutation that causes Marfan Syndrome. It's important to consult with a genetic counselor or healthcare provider for further information and testing options.
Can Trisomy 18 be detected?
Yes, prenatal screening tests like ultrasound and blood tests can detect the presence of Trisomy 18 in a fetus. Additionally, diagnostic tests such as amniocentesis or chorionic villus sampling can confirm the diagnosis.
What is achondroplasia's karyotype?
Achondroplasia is caused by a mutation in the FGFR3 gene and is not related to a specific karyotype. It is inherited in an autosomal dominant pattern, and individuals with achondroplasia typically have a normal karyotype (46 chromosomes in humans).
Can achondroplasia be passed on to offspring?
Yes. Most cases of achondroplasia are associated with a dominant mutant form of the FGFR3 gene. Thus, if someone with achondroplasia has children with a person without achondroplasia, 50% of the offspring would be predicted to inherit the disorder. If two people with achondroplasia were to have children, 50% would inherit acondroplasia (i.e. would be heterozygous for the mutant FGFR3 allele), 25% would be normal, and 25% would inherit two copies of the mutant FGFR3 allele, a condition which is almost certainly lethal.
Is achondroplasia caused by a mutation?
Yes, achondroplasia is primarily caused by a specific mutation in the FGFR3 gene. This mutation leads to abnormal bone growth and results in the characteristic features of achondroplasia, such as short stature and characteristic facial features.
Can hemophilia be detected in the child before birth?
yes hemophilia can be detected before birth
How is the genetic disease achondroplasia detected?
i wont u to answer me the answer of the main question for genetic reults
How would you determine if your child has Achondroplasia before birth?
I believe the only way to determine if your child has achondroplasia before birth is by having an ultrasound. They would measure the bones to determine if the child is growing accordingly to age, however it has to be done after the 4th or 5th month of pregnancy, because that's when it would show up on the ultrasound.
How is achondroplasia passed on?
When a mother gives birth (naturally) to a child who has it, the mother may transmit it during birth
Is achondroplasia lethal?
No, achondroplasia by itself is not fatal, however there are some life threatening complications that can arise from abormal bone growth like hydrocephalus (an abnormal cerebrospinal fluid leak into the brain) which if not detected and left untreated can be fatal.
What are the test or indications that can be detected before birth?
Random orgasims, morning sickness and a fond for odd foods.
Can breast cancer be detected before birth?
No it can not be detected so early, the girl must be 12 or14 years to have a breast to catch cancer, this is a disease of ladies not children.
Can Marfan Syndrome be detected before birth?
Yes, Marfan Syndrome can be detected before birth through prenatal genetic testing such as chorionic villus sampling or amniocentesis. These tests can detect whether the fetus has inherited the genetic mutation that causes Marfan Syndrome. It's important to consult with a genetic counselor or healthcare provider for further information and testing options.
How much is medicines or hospitals for people with achondroplasia?
There are no medications for achondroplasia
How is achondroplasia diagnosed?
whats the name of the test that diagnoses achondroplasia
Do Ellie Simmonds parents have achondroplasia?
no Ellie Simmonds parents has not got achondroplasia
Is achondroplasia hereditary?
yes, achondroplasia is hereditary and if one of a parent has it you have 50% chance to inheriting it.
