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Is achondroplasia a chromosomal abnormality?
Yes, it takes place in chromosome 4.
What is a chromosomal defect?
A abnormality in the size, shape, or number of chromosomes.
An inherited disease or disorder that is caused by a mutation in a gene or by a chromosomal defect?
There are many thousands of different mutations.
What is the chromosomal defect that causes Prader Willi?
its when seven genes chromosome 15 are missing or ununexpressed on the paternal chromosome.
What type of inheritance is achondroplasia?
Achondroplasia is inherited by the parents as a dominant disease. It occurs from a defect in the FGFR3 gene. It usually occurs spontaneously. if both parents have the disease they have a 25% chance of having a normal sized child, a 50% chance of having a child with Achondroplasia, and a 25% chance of the child getting both genes from each parent which results in death.
Is down syndrome and pku caused by chromosomal abnormalities?
Down syndrome is caused by an additional chromosome while PKU is due to a mutation or defect in a gene.
How is achondroplasia diagnosed?
whats the name of the test that diagnoses achondroplasia
How much is medicines or hospitals for people with achondroplasia?
There are no medications for achondroplasia
Is the disease marfan syndrome a chromosomal ad normality?
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
How is dwarfism passed?
There are two types of dwarfism that are hereditary. Diastrophic Dysplasia is inherited through a recessive gene while Achondroplasia is passed on through a dominant gene.
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.
