Disorders of the 17th Chromosome

DISORDERS OF THE 17th CHROMOSOME

By: Gillian Cochran

CONE-ROD DYSTROPHY (cont.)

CONE-ROD DYSTROPHY

Description:

Cone-Rod Dystrophy is a disease that takes place in the eye and can usually lead to blindness

Gene Map Locus: gene linkage to this disease was found in the loci 17p12-17p13

Symptoms:

• decreased sharpness of vision
• increased sensitivity to light
• impaired color vision
• blind spots in field of view (center and sides)
• involuntary eye movements
• blindness

Frequency:

affects an estimated 1 in 30,000 to 40,000 individuals

SMITH-MAGENIS SYNDROME

CITATIONS

SMITH-MAGENIS SYNDROME (cont.)

Description:

Smith-Magenis Syndrome is a developmental disorder that affects many regions and parts of the human body.

Gene Map Locus: 90% of cases of Smith-Magenis Syndrome have to do with deletion surrounding the 17p11.2 locus and other mutations surrounding the RAI1 gene

Symptoms:

• mild to moderate intellectual disability
• delayed speech and language skills
• distinctive facial features
• sleep disturbances
• behavioral problems

Treatment/Management:

• occupational and physical therapy
• assessment of skills (motor, speech, social, etc.)

Frequency:

affects 1 in 25,000 individuals. Although, scintists believe that many with this disorder were not diagnosed leading to an estimated 1 in 15,000 individuals.

"Acute Promyelocytic Leukemia; APL." OMIM. OMIM, 22 Nov. 2011. Web. 25 May 2016.

<http://www.omim.org/entry/612376>.

"Chromosome 17." Genetics Home Reference. U.S. National Library of Medicine, 25

May 2016. Web. 25 May 2016. <https://ghr.nlm.nih.gov/chromosome/

17#conditions>.

"Cone-Rod Dystrophy." Genetics Home Reference. U.S. National Library of

Medicine, 25 May 2016. Web. 25 May 2016. <https://ghr.nlm.nih.gov/

condition/cone-rod-dystrophy>.

"KANSL1-Related Intellectual Disability Syndrome." NCBI. NCBI, 10 Jan. 2013.

Web. 25 May 2016. <http://www.ncbi.nlm.nih.gov/books/NBK24676/>.

"Koolen-de Vries Syndrome." Genetics Home Reference. U.S. National Library of

Medicine, 25 May 2016. Web. 25 May 2016. <https://ghr.nlm.nih.gov/

condition/koolen-de-vries-syndrome>.

"Koolen-de Vries Syndrome." OMIM. OMIM, 24 Sept. 2014. Web. 25 May 2016.

<http://www.omim.org/entry/610443>.

"Localisation of a Gene for Dominant Cone-Rod Dystrophy (CORD6) to Chromosome

17p." Human Molecular Genetics. Oxford Journals, 2016. Web. 25 May 2016.

<http://hmg.oxfordjournals.org/content/6/4/597.long>.

"Smith-Magenis Syndrome." Genetics 4 Medics. Genetics 4 Medics, 1 Feb. 2014.

Web. 25 May 2016. <http://www.genetics4medics.com/

smith-magenis-syndrome.html>.

"Smith-Magenis Syndrome." Genetics Home Reference. U.S. National Library of

Medicine, 25 May 2016. Web. 25 May 2016. <https://ghr.nlm.nih.gov/

condition/smith-magenis-syndrome>.

PICTURES:

http://hematologyinprogress.net/wp-content/uploads/2015/02/Ferrara_approfondimento_ACUTE_PROMYELOCYTIC_LEUKEMIA_IN_ADULT_PATIENTS_Figure_2.jpg

http://www.supportourribbons.com/custom-magnet-image/18215-custom-ribbon-magnet-sticker-Leukemia%20Awareness.png

http://www.naturaleyecare.com/eye-conditions/rod-cone-dystrophy/rod-cone-dystrophy.jpg

http://www.genetics4medics.com/uploads/3/0/8/0/3080157/9348957_orig.png?437

http://genetics4medics.com/uploads/3/0/8/0/3080157/8022701_orig.png

https://upload.wikimedia.org/wikipedia/commons/thumb/7/75/Chromosome_17.svg/2000px-Chromosome_17.svg.png

ACUTE PROMYELOCYTIC LEUKEMIA

ACUTE PROMYELOCYTIC LEUKEMIA (cont.)

Description:

Acute Promyelocytic Leukemia is a blood disease that is caused by translocation of genetic coding from chromosomes 15 and 17. This disease decreases the production of white blood cells leading to a weak immune system making it hard for the person possessing this disease to fend against illness.

Gene Map Locus: no specific locus on the 17th chromosome is stated (possibly 17q21.32). This disease is caused by a general translocation of genetic information between the 17th and 15th chromosome. This occurs on the RARA gene.

Symptoms:

• blood-clotting
• bleeding problems

Treatment:

drugs including all-trans-retinoic acid (ATRA), chemotherapy, and the transfusion of platelets or other blood substances/products.

KOOLEN-DE VRIES SYNDROME

KOOLEN-DE VRIES SYNDROME (cont.)

Description:

Koolen-De Vries syndrome is a chromosomal mutation that has to do with moderate intellectual disabilities and developmental delay.

Gene Map Locus: 17q21.31; caused either by deletion or mutation. This disorder can be created on the KANSL1 gene.

Symptoms:

• delayed speech
• epilepsy
• friendly/amiable disposition
• varying, distinct facial features

Frequency: 1 in 16,000 people have Koolen-De Vries Syndrome although, it is possibly an underlying disorder that is not investigated if said person has an intellectual disability. This means that this disorder is underdiagnosed