A non-profit organization
for those affected by
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.
This is an actual FISH from an amnio. Note the 2
short arms of chromosome stuck together.
This is an example of a karotype (chromosome make-up) of
a person with Pallister-Killian Syndrome
47, XY, +i (12) (p10)  / 46 , XY 
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
 means that two cells had this make up
46 means # of chromosomes
 means that 18 cells had this make up
Other names for PKS
Pallister Mosaic 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
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
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the internet is very outdated.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
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
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.
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
PKS children typically receive the
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
High arched palate
Protruding lower lip
Streaks of hyper- and hypo- pigmentation
Faces of PKS
Faces of PKS
Faces of PKS
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
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.