Trisomy 18

     I was on youtube and found a video of parents talking about there experience. They had a child with trisomy 18 which is also known also Edwards syndrome. Doctors told them that this disorder was incompatible with life, hearing this news they decided to carry the pregnancy to term, they did not speak of the defects their child had so i decided to search for them. I found that there are three types of trisomy 18 there is full, partial and mosaic. In full trisomy 18 the individual has three 18th chromosome this occurs in 95% of all cases. Partial trisomy 18 can be caused by hereditary, in this case a part of the 18 chromosome becomes attached to another chromosome. Mosaic trisomy 18 occurs when an extra 18th chromosome is present in some but not all of the cells in the body. Physical defects include problems with the heart and kidney. Part of the intestinal track is outside the stomach, the esophagus does not connect to the stomach, there is excess amniotic fluid, clenched hands pocket of fluid in the brain, rocker bottom feet, delayed growth, small jaw, small head, low-set ears and a strawberry shaped head.
     After research i decided to watch more videos and found that most children die very young however there were cases where effected individuals survived. There is a small number of females that made it to there thirties.  

http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis

Chapter 1,2, and 14

Inter Sex-phenotypes in which male and female traits are seen in the same individual

Pseudohermaphroditism-  Inter sex condition in which the secondary sex characteristics differ from what is expected of the gonadal sex 

Gynandromorph- Body parts are male and others female.

Genomic Equivalence-the theory that every cell of an organism has the same genome as every other cell

Polyspermy- the entrance of more than one sperm during fertilization

Chromatin- a protein composed of histones

Silencers- DNA regulatory elements that actively repress the transcription of a particular gene. 

Epigenesis- the belief that organs of the embryo are formed from scratch at each generation

Performation-the view that organs of the embryo are already present in a miniature form within the egg or sperm.

What does Karen have?

On thursday night I decided to organize my youtube channel, upon looking at  my homepage I realized that there was a new Skit Guys video, called Karen's Story after watching the video I decided to research what caused Karen's disease. Karen was born with Goldenhar syndrome, it is a inherited disease that effects the cardiac, renal, central nervous system and the genitourinary tract. Studies have shown that deletions on chromosome 5 are related to this syndrome. Another study I came across was of a intrauterin death of a child with Goldenhar syndrome, with ultra sound technology the parents knew that there were developmental defects with the child's heart. After the child was expelled from the womb further autopsy showed this child had an asymmetrical face and an inclined eye lid. There were many physical features consistent with Goldenhar syndrome in the child. I noticed that these were the same physical features that Karen had. Scientist are not certain of what cause the child's death.


link for article

http://resources.metapress.com/pdf-preview.axd?code=xg343h308gx75580&size=largest