My Trisomy 18 baby was the best thing that ever happened to me. I’m glad for the 48 hours I had with her. Though it was difficult. For a brief fleeting moment, when I realized what was happening to her, I wanted to reject her. I wanted to run from her bedside like the ...
Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present