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Can you tell me about a kid with pallister-killian syndrome?

3 doctors weighed in
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral
2 doctors agree

In brief: PKS is from a genet-

ic accident that leads to the fetus' having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern.
See www.rarechromo.org for the PKS support page of the organization Unique.

In brief: PKS is from a genet-

ic accident that leads to the fetus' having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern.
See www.rarechromo.org for the PKS support page of the organization Unique.
Dr. Johanna Fricke
Dr. Johanna Fricke
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