Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

Pallister-Killian syndrome (PKS) is a rare disorder presenting with developmental delay, numerous dysmorphic features, and skin pigmentation anomalies. It is caused by mosaic tetrasomy of the short arm of chromosome 12. In most instances, tetrasomy is due to a supernumerary isochromosome i(12)(p10)....

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Syndromol
Main Authors: Toydemir, Reha M., Panza, Emanuele, Longhurst, Maria C., South, Sarah T., Rope, Alan F.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2020
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445548/
https://ncbi.nlm.nih.gov/pubmed/32903844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000507598
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