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The absence of an elastin gene from a chromosome is detected by the FISH technique.
FISH is an acronym for the technical expression "fluorescence in situ
hybridization." A blood sample is taken from your child and then treated with two
specific colored markers that give off a "fluorescent" light when exposed to
ultra-violet light. One of the markers attaches to each of the two copies of chromosome
number seven in a cell. When both copies of chromosome possess the elastin gene, an
additional fluorescence of another color is seen attached at another location to each of
the two chromosome 7s. But, as is the case in over 95% of the Williams syndrome
individuals tested, only one copy of chromosome seven, not two,
will show the fluorescent spot for the elastin gene. For pictures illustrating chromosome
seven and this test, check the article in the December, 1997 Scientific American magazine
. (Lenhoff, et. al., pp. xx-xx). If the FISH test shows the elastin gene to be missing
from one copy of chromosome seven, then the individual tested can be said to have Williams
syndrome.
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Please send mail to williamssyndrome@insightbb.com with questions or comments about this web site.For additional information about Williams syndrome, please send an e-mail to hlenhoff@uci.edu.For contact with other Williams syndrome families --In the USA: please send e-mail to info@williams-syndrome.orgOutside the USA:
please visit our
International Williams Syndrome Support Groups page for
contact information.
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