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Can you tell me about pallister-killian syndrome?

2 doctors weighed in
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral
1 doctor agrees

In brief: PKS is from a genet-

ic accident as a sperm or egg is forming that leads to the fetus' having 4 copies of the genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It impacts many organ systems & causes Intellectual Disability, "coarse" facial featues & sparse hair.
See www.rarechromo.org for the PKS support page of the organization Unique.

In brief: PKS is from a genet-

ic accident as a sperm or egg is forming that leads to the fetus' having 4 copies of the genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It impacts many organ systems & causes Intellectual Disability, "coarse" facial featues & sparse hair.
See www.rarechromo.org for the PKS support page of the organization Unique.
Dr. Johanna Fricke
Dr. Johanna Fricke
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