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PKS Kids


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									PKS Kids

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

What is Pallister-Killian
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.

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

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

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

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.

How common is PKS?

  PKS is currently known to affect less than
  200-300 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…?

  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.

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the internet is very outdated.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

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

The Children
Symptoms in these children are just as
 Most suffer from hearing and vision
 Most have cognitive delays
 Nearly all have low muscle tone.
 Some have problems with their heart
  or other organs.
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
Most PKS children see the following at
  least once:
 Neurologist
 Geneticist
 Audiologist
 Developmental Pediatrician

PKS children typically receive the
  following therapies:
 Occupational
 Physical
 Speech
 Hearing
 Vision

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

Faces of PKS

Faces of PKS

Faces of PKS

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
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
 www.pkskids.net for more information.


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