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A 47-year-old member asked:

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

1 doctor answer3 doctors weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
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.

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Last updated Dec 26, 2015

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