3 years ago

Prenatal diagnosis of Pallister‐Killian Syndrome

Mônica Silva Carneiro, Weslei Santos, Waldemar Naves do Amaral


Pallister‐Killian syndrome (PKS) was first described by Pallister et al. in 19771. This syndrome is the result of partial tetrasomy of the short arm of chromosome 12, but the mechanism that leads to the formation of isochromosome 12p in PKS is not clear. One of the possibilities is related to parent age, especially maternal age on the formation of isochromosome 12p in PKS2‐3. Prenatal diagnosis is usually incidental with karyotyping in cases of advanced maternal age, increased nuchal translucency thickness, or detection of fetal anomalies during ultrasound which assists in the collection of material for the cytogenetic study4.

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