Treacher Collins Sydrome:
Overview:
In 1900 a British ophthalmologist described two patients with this condition,
and as a result this syndrome now bears his name. Treacher Collins syndrome
has been shown to occur with the same frequency in boys and girls. Currently,
no one knows what causes this condition to occur. In over 60% of cases
both the mother and father of a child born with Treacher Collins syndrome
have normal genes, and the mother does "everything right" during her pregnancy.
The process of bringing genes together from a mother and father is quite
complicated. Once in awhile, a gene can be changed in the process. If
this occurs it the "right" gene, Treacher Collins syndrome results. This
gene has been identified and is sometimes called the "Treacle gene." This
gene is located on chromosome 5q. The chances of having a child with Treacher
Collins syndrome are about 1 in 10,000 births. Treacher Collins syndrome
can be inherited, and is transmitted in what geneticists call an "autosomal
dominant pattern." This means that if a child affected with Treacher Collins
syndrome decides to have children when he or she is grown, there is a
50% chance of having a baby who also has Treacher Collins syndrome. In
the very near future, it will be possible for individuals who have this
syndrome, to elect to not pass on this trait. However, in order to do
this, it will be necessary to undergo in-vitro fertilization and select
embryos that do not have the gene for implantation.
Physical Traits
Treatment
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