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We know that most individuals with Williams syndrome are missing genetic material on chromosome #7 including the gene that makes the protein elastin (a protein which provides strength and elasticity to vessel walls.) It is likely that the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals. If a patient has 2 copies of the elastin gene (one on each of their chromosomes #7), they probably do not have WS. If the individual only has one copy, the diagnosis of WS will be confirmed. Virtually all (98-99%) persons with typical features of WS will have a deletion of the elastin gene. In more technical terms: Williams syndrome is the result of a deletion of the 7q11.23 region of chromosome #7 containing the elastin gene and is believed to be a contiguous gene syndrome. Diagnosis of Williams syndrome is confirmed by dual colour FISH using a specific probe and a control probe.
Find more information at http://www.williams-syndrome.org/
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What are the genetic disorder caused by deletion from chromosome?
Deletion Syndrome or Williams Syndrome
What gene or chromosome is affected by down syndrome?
Chromosome 21 is tripled in Down syndrome.
What is the difference between Edward's syndrome and Patau's syndrome?
in Patau there is an extra chromosome in chromosome 13, in Edwars it the extra chromosome is in chromosome 18
What genetic abnormalities are connected with Down syndrome?
the 21 chromosome group has 3 chromosomes rather than twogiving the child 47 total chromosome rather than 46.
Is angelman syndrome autosomal?
"Autosomal" means the syndrome or disorder of interest is pertaining to a chromosome that is not a sex chromosome, either X or Y. Angelman and Prader-Willi Syndrome are both caused by a deletion (or disruption of a gene) on chromosome 15, which is an autosomal chromosome and not a sex chromosome. Therefore, yes, Angelman syndrome is considered an autosomal syndrome.
Down syndrome is usually caused by an extra copy of what chromosome?
Down syndrome occurs because of the extra chromosome on chromosome 21. If you go onto google images and type in karyotype of Down syndrome, you will find a picture of the extra chromosome. Instead of having two chromosomes on chromosome 21, there is an extra. Type your answer here...
Does the Y chromosome in Klinefelters syndrome look like the X chromosome?
No. People with Klinefelter's syndrome have a normal Y chromosome and 2 normal X chromosomes.
Is Down syndrome a genetic disorder or a chromosome disorder?
Down syndrome is a chromosomal disorder. It is caused by having 1 extra chromosome (chromosome 21).
What are four types of chromosomal mutations?
Four types of chromosomal mutations are Down syndrome (which is a mutation in which there are three copies of chromosome 21), Kinefelter Syndrome (which is a mutation in which a male has an extra X-chromosome), Turner Syndrome (which is a mutation in which a female is missing an X-chromosome), and Patau Syndrome (which is a mutation in which there are three copies of chromosome 13).
Is Angelman syndrome the same as Down syndrome?
Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same. Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.
Which syndrome is characterized by the XO chromosome abnormality?
Turner Syndrome! Because women with the disorder only have one X chromosome
What chromosome is affected by meckel syndrome?
Meckel Syndrome (type 1)is an autosomal recessive trait carried on chromosome 17.
