Pallister-killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

HIGHLIGHTS

  • who: Birsen Karaman from the (UNIVERSITY) have published the research work: Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases, in the Journal: (JOURNAL)
  • what: Phenotypic and cytogenetic variability of PKS may be challenging for the differential diagnosis.

SUMMARY

    Not primarily not detected since mosaicism was limited to fibroblasts and not present in lymphocytes. Areas of hyper- or hypo-pigmentation are often found and reflect the mosaic pattern of the skin, with different proportions of hyperdiploid cells. The mean age at the time of diagnosis was about 2.5 . . .

     

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