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PKS Kids
A non-profit organization for those affected by Pallister-Killian Syndrome

2. What is Pallister-Killian Syndrome?
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What is Pallister-Killian Syndrome?
Pallister-Killian Syndrome or PKS is a rare disorder which occurs for no known reason. It involves a double duplication of the short arm of chromosome 12. It is also a mosaicism. This means that only a certain number of cells are affected by the extra parts of the chromosome. Some cells are normal.

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Chromosome 12
This is an actual FISH from an amnio. Note the 2 short arms of chromosome stuck together.

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PKS Karotype
This is an example of a karotype (chromosome make-up) of a person with Pallister-Killian Syndrome
47, XY, +i (12) (p10) [2] / 46 , XY [18]
47  means # of chromosomes tested, male (X,Y)
+i (12)  means plus an Isochromosome of chromosome 12 (an extra chromosome made up of two copies of one arm of a chromosome but lacking copies of the other arm)
(p10) means p-the short arm of chromosome, 10 means the band at which is stopped
[2] means that two cells had this make up
46 means # of chromosomes
[18] means that 18 cells had this make up

5. Other names for PKS Killian/Teschler-Nicola Syndrome
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Other names for PKS
Killian/Teschler-Nicola Syndrome
Pallister Mosaic Syndrome
Tetrasomy 12p
Killian Syndrome
Teschler-Nicola/ Killian Syndrome

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Who is affected by PKS?
PKS knows no boundaries. People around the world of all different ethnic backgrounds can have children with PKS.
It is a genetic condition which happens during conception. It is not hereditary or environmental.

7. So, why aren’t there more cases…?
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How common is PKS?
PKS is currently known to affect less than children in the world. Some doctors believe the rate of incidence should be as high as 2,000 cases in the U.S. alone.
So, why aren’t there more cases…?

8. Testing and Diagnosing
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Testing and Diagnosing
We believe there are cases out there that need more testing to ensure an accurate diagnosis!
Testing is done via skin biopsy, blood work or a buccal smear (cells removed from the inside of one’s cheek). If nothing shows in the blood, often doctors will leave it at that.
However, often, affected cells leave the bloodstream after just a few days leaving no trace of anything wrong. If the child appears to have a disorder, always follow up with a skin biopsy or a less-invasive buccal smear.

9. One thing is certain; all these children are unique.
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Prognosis
Right now, many doctors don’t know much about PKS. The information in medical documents and the internet is very outdated. Doctors tell families what they know but that information may no longer be accurate.
PKS Kids is trying to change that through educational materials and opportunities.
One thing is certain; all these children are unique.

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The Children
Many parents have heard it: PKS children will never walk or talk. We can tell you differently! Over half of the children in a PKS support group walk. Slightly less are verbal, but still others communicate through sign language.
Will they see their 10th birthday? Yes, we know of children who are 14, 18 and even in their 20’s. One young man is 31 years old!

11. The Children Symptoms in these children are just as varied.
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The Children
Symptoms in these children are just as varied.
Most suffer from hearing and vision loss.
Most have cognitive delays
Nearly all have low muscle tone.
Some have problems with their heart or other organs.

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The Children
Some have weak lungs and are susceptible to colds and pneumonia.
Many children suffer from seizures
Some children are tube-fed
Some children are never able to sit up, walk or talk
Most PKS children look very much alike!

13. Doctors Most PKS children see the following at least once: Neurologist
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Doctors
Most PKS children see the following at least once:
Neurologist
ENT
Geneticist
Audiologist
Developmental Pediatrician

14. Therapists PKS children typically receive the following therapies:
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Therapists
PKS children typically receive the following therapies:
Occupational
Physical
Speech
Hearing
Vision

15. Physical Characteristics
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Physical Characteristics
Unique pattern of hair growth. Sparse at temples and back of head. Usually fills in by age 5
Prominent high forehead
Low set ears
Wide, flat nasal bridge
Strabismus
High arched palate
Protruding lower lip
Streaks of hyper- and hypo- pigmentation
Accessory nipples
Displaced anus

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Faces of PKS

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Faces of PKS

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Faces of PKS

19. Early diagnosis means early treatment and therapies!
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PKS Kids
By now, we’re sure you’ve realized the need to educate the public and the medical professionals about PKS. The need to provide updated information and provide hope to families of PKS patients.
PKS Kids was started in 2006 by parents of children with PKS. They are striving to provide education and awareness so these children are diagnosed as soon as they are born.
Early diagnosis means early treatment and therapies!

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PKS Kids
How can you help? Our organization is non-profit and relies strictly on donations and grants to provide resources to educators and families. If you are able to make a donation or hold a fundraiser, please visit our website for more information.