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If we have helped one parent feel supported, enlightened and hopeful of their child’s future,

we have succeeded.

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that are beginning their journey in dealing with PKS.

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PKS Support

P.O. Box 91214

Lafayette, LA 70517

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Your child has been diagnosed with a syndrome called Pallister Killian Syndrome (PKS). The best way to help your child is to learn all you can about this syndrome and the way your child will develop.

Pallister Killian Syndrome can also be known as:

Chromosome 12, Isochromosome 12p Mosaic

Killian Syndrome

Killian/Teschler-Nicola Syndrome

Pallister Mosaic Syndrome

Pallister Mosaic Syndrome Tetrasomy 12p

According to NORD (National Organization for Rare Disorders), “Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major features may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge and a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.

SYMPTOMS:

Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair at birth, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures at birth, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays). Congenital heart defects, hernias of the diaphragm, a narrowing of the external auditory canal (stenosis) and an abnormal opening in the anus have also been associated with Pallister-Killian Mosaic Syndrome. **We have found not all children have all of the symptoms listed.

CAUSES:

Pallister-Killian Mosaic Syndrome is caused by Tetrasomy of chromosome 12p.  This means that your child has 4 copies of the short arm of the 12^th chromosome. Two of the 4 chromosomes are the normal 12^th chromosome and the other one (EXTRA ONE is the other two pieces joined together to form an extra chromosome.  Pallister Killian is also a mosaic for which means it DOES NOT affect every cell in your child’s body.)

What is a chromosome? 

A chromosome is a structure in a cell nucleus that consists of genes. In humans, 23 pairs of chromosomes, each pair containing one chromosome from each parent, carry the entire genetic code.  Under a normal case of PKS there is nothing wrong with any other Chromosome except for the 12^th. 

What is a karyotype?

Karyotyping is a test for chromosomal abnormalities. A sample is taken from the blood, bone marrow, amniotic fluid, etc. The sample is then used to grow more cells for testing. The cells are harvested then looked at under a microscope. You may have been given a karyotype done of your child’s cells. It could look something like:

47,XX,+i(12)(p10)[1]/46,XX[49]

From this karyotype: ‘47’ = number of chromosomes; ‘XX’ = female; ‘+i(12)’ = there is an Isochromosome of the 12^th one; ‘(p10)’ = the duplication is of the short arm; ‘[1]’ = one cell contains this anomaly; ‘46’ = number of chromosomes; ‘XX’ = female; ‘49’ = forty-nine cells counted with this scenario.

THERE IS NOTHING YOU DID TO CAUSE YOUR CHILD TO GET PKS!

Doctors believe that it is not inherited from either parent.  It is not related to your eating habits or diet. It can’t be given to other children like a cold. Your age at conception is not a definitive factor. It just happened when the cells began dividing. 

How do doctors treat PKS?

At this time, there is no treatment for Pallister Killian syndrome.  But once a correct diagnosis is made, appropriate prognosis and recurrence risk counseling can be provided to the patient.   If your child is under the age of three, they will recommend you to call your local department of Early Intervention or they can refer your child for you.  Depending where you live in the world, your child may be eligible for many types of therapy services.  This step is crucial!  It has been shown that the earlier the child starts therapy, the more progression they make. Your child may also see several different specialists according to his/her needs. These may include neurologists, orthopedists, cardiologists and geneticists.

How will Pallister Killian Syndrome affect my child?

A Doctor can not tell you how badly your child will be affected.  The percentage of cells that carry the extra 12^th chromosome does not show to correlate with the severity of the symptoms.  We have seen a child with 2% of their cells carrying the extra chromosome and a child with 57%. The child with fewer cells affected showed more severe symptoms of PKS than the child with more cells affected.

PKS can be a frightening syndrome to deal with for parents. You are not alone!  Call your doctor if you have any concerns. Ask other special needs parents for their experiences. It will help to talk to someone.

To learn more about PKS visit:

PKS Support group online at http://groups.yahoo.com/group/pks_support/ 

or

http://www.pk-syndrome.org/