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Chromosome 7 Disorders

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by

Sean Allen

on 2 December 2013

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Transcript of Chromosome 7 Disorders

Chromosome 7 Disorders

By: Sean Allen

Cystic Fibrosis
7q31.2
Background
Cystic Fibrosis is an inherited disease. It is the buildup of thick, sticky mucus that can damage many of the body's organs.
Greig Cephalopolysyndactyly Syndrome
7p13
Background
Greig Cephalopolysyndactyly Syndrome is a disorder that affects development of the limbs, head, and face. The features can range from very mild to very severe.
Williams Syndrome
7q11.23
Background
Williams Syndrome is a developmental disorder that affects various parts of the body. Williams Syndrome is uasally uninherited but can be in rare cases. It is caused by the deletion of genetic material from a portion of the long(q) arm of chromosome 7. The deleted region includes more than 25 genes. Researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are the most common deleted genes.
Saethre-Chotzen Syndrome
7p21.2
Background
Saethre-Chotzen Syndrome is characterized by premature fusion of certain skull bones. This prevents the skull from growing normally and affects the shape of the head and face. This disoder happens when a region of the short(p) arm of chromosome 7 that contains the TWIST1 gene is changed.
Symptoms
chronic coughing
wheezing
Scar tissue and cysts in the lungs
Digestive Problems
Inheritance
Cystic Fibrosis is inherited
Cystic Fibrosis is an autosomal recessive trait/disorder
Prevalence
1 in 2,500 to 3,500 White Americans
1 in 17,000 African Americans
1 in 31,000 Asian Americans
Symptoms
One or more extra fingers or toes
Very wide thumb or big toe
Skin between the fingers and toes may also be fused
Widely spaced eyes
Large head size
Distinguishing forehead
In rare case, they may have seizures, developmental delay, and intellectual disability
Inheritance
Greig Cephalopolysyndactyly Syndrome is inherited
It is an autosomal dominant trait/disorder
In some case, a family with no history of the condition can have a child with this disorder
Prevalence
This condition is very rare
It is so rare, that its prevalence is unknown
Symptoms
Difficulty with visual-spatial tasks
Attention deficit disorder
Anxiety
Different Phobias
Small, widely spaced teeth
Crooked or missing teeth.
Problems with coordination
Short stature
Inheritance
In most cases, Williams Syndrome is not inherited
This happens during formation of a reproductive cell at random occurences
Williams Syndrome is considered an autosomal dominant trait/disorder
If it is inherited, the offspring inheits the chromosomal deletion of their parents DNA
Prevalence
1 in 7,500 to 20,000 people
Symptoms
Mild abnormalities of the hands and feet
Delayed development
Learning difficulties
Abnormally shaped heads
Short stature
Abnormalities of the bones in the spine
Hearing loss
Heart defects
Inheritance
Saethre-Chotzen Syndrome is inherited
It is an autosomal dominant trait/disorder
It can also be a hidden trait, where the person would be a carrier
Prevalence
1 in 25,000 to 50,000 people
Works Cited
Buss, K. "Cystic Fibrosis." Pathology Project. WordPress, 4 Feb. 2011. Web. 1 Dec. 2013. <http://pathologyproject.wordpress.com/2011/02/04/cystic-fibrosis/>.

"Craniosynostosis." Cranial Center. Two River Interactive, 1 Jan. 2011. Web. 1 Dec. 2013. <http://cranialcenter.com/plagiocephaly/craniosynostosis/>.

"Manifestations Of The Williams Syndrome." Alternative Medicine and Natural Health News RSS. Methods of Healing, 10 Sept. 2010. Web. 1 Dec. 2013. <http://www.methodsofhealing.com/manifestations-of-the-williams-syndrome/>.

National Library of Medicine. "Chromosome 7." - Genetics Home Reference. Bethesda (MD), 25 Nov. 2013. Web. 29 Nov. 2013. <http://ghr.nlm.nih.gov/chromosome/7>.

National Library of Medicine. "Saethre-Chotzen syndrome." - Genetics Home Reference. Bethesda (MD), 25 Nov. 2013. Web. 29 Nov. 2013. <http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome>.

National Library of Medicine. "Cystic fibrosis." - Genetics Home Reference. Bethesda (MD), 25 Nov. 2013. Web. 29 Nov. 2013. <http://ghr.nlm.nih.gov/condition/cystic-fibrosis>.

National Library of Medicine. "Greig cephalopolysyndactyly syndrome." - Genetics Home Reference. Bethesda (MD), 25 Nov. 2013. Web. 29 Nov. 2013. <http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome>.

National Library of Medicine. "Williams syndrome." - Genetics Home Reference. Bethesda (MD), 25 Nov. 2013. Web. 29 Nov. 2013. <http://ghr.nlm.nih.gov/condition/williams-syndrome>.

"Resimmax.Net Resime Doyacaksınız." Parmaklar neden çıtlar ve Parmak çıtlatmak zararlımıdır?. WordPress, 19 Jan. 2010. Web. 1 Dec. 2013. <http://www.resimmax.net/cevabiniaradiginizsorular/parmaklar-neden-citlar-ve-parmak-citlatmak-zaralimidir.html>.


MLA formatting by BibMe.org.
X-Ray of hand with 6 fingers
Crooked Teeth
Normal Head
Abnormal Head
Saethre-Chotzen Syndrome
Williams Syndrome
Greig Cephalopolysyndactyly Syndrome
Cystic Fibrosis
Full transcript