Trisomy 21


Description:
Trisomy 21 know as Down syndrome its not only a disease of retardation it also includes heart defects, the esophagus does not connect to the stomach (meaning the child cant not eat),delayed grow , small jaw, low set of ears,

Inheritance:
Trisomy 21 occurs when the result in 47 chromosomes instead of the 46 in the affected cells .it is this extra genetic material that causes this problem associated with trisomy 21. Chromosome 21 chromosome somehow breaks. A piece of the 21 chromosome then becomes attached to another chromosome. Each cell still has 46 chromosomes but the extra piece of chromosome 21 results in the signs and symptoms of Down syndrome. This will increase about 3- 4% of cases of Down syndrome.


Symptoms:
·Small head
·Flat bridge of the nose
·Smaller than normal, low-set nose
·Small mouth, which causes the tongue to stick out and to appear overly large
·Upward slanting eyes
·Extra folds of skin located at the inside corner of each eye, near the nose
·Rounded cheeks
·Small, misshapen ears
·Small, wide hands



Daily Life:





Diagnosis:
A ultrasound waves are sent during the pregnancy to give the information if there is a possibility of the child having trisomy 21.to confirm trisomy 21 a small blood sample can be taken and the chromosomes can be analyzed to determine that extra chromosomes.


Treatment:
Trisomy 21 is being treated with physical therapy and speech therapy. Doctors or a special team will give special knowledge how to do the physical treatment at home. Some children with trisomy 21 have heart problems and go to the doctor ones a while for medication.



Research:
Scientist and specialist are searching every day to prevent this disorder but they had not yet found a cure. Current studies focus on the biologic basis of Down syndrome, medical and neurodevelopmental consequences, and effective interventions.



Additional Facts:
A child with trisomy 21 can have a normal life if he has the proper treatment. The chance of having a baby with trisomy 21 increases as a woman gets older. The celiac disease is more common with the people with trisomy 21.



Punnett Square:

The punnett square is not need it because the punnett square is for alleles and trisomy 21 concerns three chromosomes.

Pictures: tri.jpgtrisomy21a.jpg



Pedigree Chart:


Diego_Reyes_pedigree_chart_.PNG
Resources:

Internet
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/downs.html
http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/\




Pub Med Health