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Patau Syndrome

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Kristen Abraham

on 11 November 2014

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Transcript of Patau Syndrome

Extra chromosome 13
neither dominant or recessive
Severe disabilities and symptoms
Associated with cleft palate
Different Types
Trisomy 13: Extra 13th chromosome in all cells of the body

Trisomy 13 Mosaicism: Extra 13th chromosomes are only present in some cells of the body

Partial Trisomy: A part of an extra 13th chromosome in all cells of the body
How Does it Manifest Itself?
The symptoms of this disorder include:
Cleft palate
Fusing of eyes
Skeletal abnormalities
Smaller jaw/eyes/head
Intellectual Retardation
Decreased muscle
What is Patau Syndrome?
Case-by-case basis
Usually not surgery for first few months
Bio-ethical issue
How is Patau Syndrome Inherited?
Not inherited unless balanced translocation
Chromosomal Translocation
Non-disjunction in maternal meiosis
Risk directly related to age
Unlikely to repeat in siblings

The Basics of
Patau Syndrome

Medical Aspects
Patau Syndrome

By Kristen Abraham
of an Individual with Patau Syndrome
Diagnosis of Trisomy 13
Chorionic Villus Sampling
Ultrasound at 20 weeks
Features present after birth lead to genetic testing
Life Expectancy
Most die within first few weeks of life
5-10% live past year 1
90% die in first year
Longest life recorded: about 13 years old
*Congenital Heart Disease
Current Research
New prenatal blood test can identify down syndrome, Edward's syndrome(trisomy 18), and Patau syndrome
High risk moms
As early as 10 weeks
1. "Patau Syndrome (Trisomy 13)." Trisomy 13. Web. 9 Nov. 2014. <http://medgen.genetics.utah.edu/photographs/pages/trisomy_13.htm>.

2. "Trisomy 13: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 7 Nov. 2014. Web. 10 Nov. 2014. <http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm>.

3. "Trisomy 13." Genetics Home Reference. 4 Nov. 2014. Web. 10 Nov. 2014. <http://ghr.nlm.nih.gov/condition/trisomy-13>.

4."Trisomy 13 | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS)." Trisomy 13 | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS). 9 Jan. 2012. Web. 10 Nov. 2014. <http://rarediseases.info.nih.gov/gard/7341/trisomy-13/resources/1>.

5. "Genetic Disorders." Medical Revolution. Yola. Web. 10 Nov. 2014. <http://genmed.yolasite.com/genetic-disorders.php>.

6. "Study Shows That New DNA Test That Identifies Down Syndrome in Pregnancy Can Also Detect Trisomy 18 and Trisomy 13." Study Shows That New DNA Test That Identifies Down Syndrome in Pregnancy Can Also Detect Trisomy 18 and Trisomy 13. Web. 10 Nov. 2014. <http://www.womenandinfants.org/news/Research-Published-in-Genetics-in-Medicine.cfm>.

7. "Diagnostic." Diagnostic Ultrasound 4D Ultrasounds In Tyler Texas Gender Determination SonoCarenet. Web. 10 Nov. 2014. <http://sono-care.net/diagnostic-ultrasound>.

8. Rios, MD, Angel, Susan Furdon, Darius Adams, and David Clark. "Recognizing the Clinical Features of Trisomy 13 Syndrome." Medscape Mulitspecialty. Web. 10 Nov. 2014. <http://www.medscape.com/viewarticle/496393_7>.
Genetic Counseling
Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the patient.
Full transcript