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In humans it's an autosomal dominant trait resulting in dwarfism in heterozygotes due to premature closure of the long bone growth plates. In homozygotes the syndrome is lethal shortly after birth as the affected child cannot effectively breathe.
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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.
Is cleft lip a chromosomal error or a multifactorial trait?
neither, it is a birth defect
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.
An inherited condition in which bones of the arms and legs fail to grow normally because of a defect in cartilage and bone formation?
It would be Achondroplasia. Also see Achondroplastic Dwarf.
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 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
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.
What are complimentary way DNA's nitrogen bases bond together allow the molecule to make an identical copy If a mistake is made in the replication of DNA it is called a?
chromosomal defect
