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https://www.kumc.edu/AMA-MSS/Study/table_of_genetic_disorders.

htm
https://ghr.nlm.nih.gov/condition/trisomy-18

Edwards Syndrome: a condition that causes severe developmental delays due to an extra
chromosome 18 (trisomy 18)
Very rare
Chromosomal
symptoms: Slow growth before birth and low birth weight, small, abnormally shaped
head; a small jaw and mouth; clenched fists with overlapping fingers
Most die before birth or within the first month of birth
5-10% of children with this disease can live past a year and often end up with a severe
intellectual disability

https://www.chromosome18.org/trisomy-18/

Chromosome 18:
https://ghr.nlm.nih.gov/chromosome/18
78 million DNA building blocks and represents 2.5% of total DNA in the cells
Contains about 200-300 genes that provide instructions for making proteins

Inheritance pattern
https://edwardssyndrome-nicole.weebly.com/genetics.html
Is not due from dominant/recessive sex linked or autosomal inheritance
Occurs randomly during the formation of a sperm and egg
It is an error in cell division (nondisjunction) results in a reproductive cell with an
abnormal number of chromosomes
Nondisjunction - when homologous pairs dont split in meiosis 1 or sister chromatids dont split
in meiosis 2

What gene is involved


Chromosome 18
Occurs randomly, no mutation
When the body has three copies of chromosome 18 instead of 2
Mosaic trisomy 18 - have an extra copy of chromosome 18 in only some of the bodys cells.
The severity can range from normal to severely affected. Not inherited, occurs as a random
event during cell division early in embryonic development
Partial trisomy 18 - part of the long arm of chromosome 18 moves to another chromosome
during the formation of reproductive cells. This is less severe. Can be inherited as an unaffected
person can carry a rearrangement of genetic material between chromosome 18 and another
chromosome ( balanced translocation - no extra material from chromosome 18)

What is the normal function of this chromosome?


https://ghr.nlm.nih.gov/chromosome/18
Represents 2.5% of total DNA

Genetic risks:
https://www.nhs.uk/conditions/edwards-syndrome/
The risk of having a child with edwards syndrome increases with maternal age
Mothers over the age of 35 are offered tests (screenings) between 10-14 weeks of
pregnancy to determine if their child will have ES
There are multiple other tests that can be taken during pregnancy that includes taking
samples of the fetus cells and scans to look for physical abnormalities

http://genetics.thetech.org/ask/ask274

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