Delview CSI-Ablinism&DownSyndrome

Down Syndrome

Down Syndrome also known as Trisomy 21 is a condition in which and extra chromosome 21 is added , so instead of having 46 chromosomes in total the person has 47. Down Syndrome is a syndrome that affects your physical and mental development. The physical change is : flat facial profile; upslanting eyes ; flat nasal bridge; a prominent tongue; a single crease along the plams of the hands (transvers palmer) ;smaller limbs ,ears , body and head physical characteristics vary with each person.People with Down Syndrome are often shorter then the average adult person. People with down syndrome also have weaker muscles through out there body, There maybe other medical problems connected with Down Syndrome. There is no way to treat Down Syndrome but there are ways to help speech therapy and physical therapy are often used to help with everyday life for the person with down syndrome

Albinism

Albinism: is the gene mutation of the gene that produces the protein, melanin. Melanin gives your skin, hair and eyes pigment. When the gene is mutated, the person born with albinism will have no or little pigment. To cause this to happen a mutated gene must be passed down from each parent, though “albinos” are usually born to parents of normal pigment. Albinism often occurs along side of vision problems in the eyes caused by undeveloped retinas. Albinism effects 1 in every 17,000 Americans.

Kinds of Albinism:

Ocolocutaneous Albinism I

This is a mutation of gene in chromosome 11. People who have Ocolocutaneous Albinism I will have milky white skin ,white hair (which may become golden blonde or brown), and blue eyes (which as the person ages may change color and will lose translucence).

Ocolocutaneous Albinism II

This is a mutation of gene in chromosome 15. People who have Ocolocutaneous Albinism II will have yellow, auburn, ginger or red hair, with blue, grey or tan eyes. Their skin may develop freckles and become tan when exposed to sunlight.

Ocolocutaneous Albinism III

This is a mutation of gene in chromosome 9. People who have Ocolocutaneous Albinism III will have reddish-brown skin, red or ginger hair and hazel or brown eyes.

Ocolocutaneous Albinism IV

Mutation of gene in chromosome 5. This type of Albinism is rare and most common in people of Japanese decent. Symtoms very similar to those of Ocolocutaneous Albinism II.

X linked Ocular Albinism

Mutation of gene in chromosome X, therefore, exclusively occurs in males. Symptoms include vision problems. Skin, hair and eyes color similar to rest of family, slightly lighter.

Hermansky-Pudlak Albinism

This is a mutation of one of seven mutated genes that may cause person with this type of Albinism to develop lung and bowel diseases and possibly a bleeding disorder.

Chediak-Higashi Syndrome

This is a mutation of gene in chromosome 1. very rare. People who have Chediak-Higashi syndrome have blonde or brown hair with a silvery sheen, as well as skin colour ranging from white to greyish. They will have a defect in white blood cells.

Bibliography

Works Cited

"Albinism: Causes - MayoClinic.com." Mayo Clinic medical information and tools for healthy living - MayoClinic.com. N.p., n.d. Web. 23 Nov. 2009. <http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=causes>.

"Introduction." LunaEterna's Observatory. N.p., n.d. Web. 20 Nov. 2009. <http://www.lunaeterna.net/popcult/intro.htm>.

"NOAH â€” What is Albinism?." NOAH - The National Organization for Albinism and Hypopigmentation. N.p., n.d. Web. 20 Nov. 2009. http://www.albinism.org/publications/what_is_albinism.html.

"Down Syndrome - Causes, Symptoms, Treatment, Diagnosis - Family and Child Health - Body & Health." Site Map - Body & Health. N.p., n.d. Web. 23 Nov. 2009. <http://bodyandhealth.canada.com/channel_condition_info_details.asp?disease_id=44&channel_id=9&relation_id=10860>.

"Down Syndrome ." KidsHealth - the Web's most visited site about children's health. N.p., n.d. Web. 23 Nov. 2009. <http://kidshealth.org/parent/medical/genetic/down_syndrome.html>.

"Down Syndrome-Symptoms." WebMD Children's Health Center - Kids health and safety information for a healthy child. N.p., n.d. Web. 24 Nov. 2009. <http://children.webmd.com/tc/down-syndrome-symptoms>.

Leshin, Len, MD, and FAAP. "Trisomy 21: The Origin of DoSyndrome: Health Issues - Medical Essays and Information. N.p., n.d. Web. 23 Nov. 2009. http://www.ds-health.com/trisomy.htm.