Suspected cardiac amyloidosis: Endomyocardial biopsy remains the diagnostic gold-standard

Array CGH on unstimulated blood does not

Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: A skin biopsy should remain the diagnostic gold standard

✍ Jennelle C. Hodge; Rachael L. Hulshizer; Pam Seger; Angelique St Antoine; Jennif 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 1 views

## Abstract A child whose features are consistent with Pallister–Killian syndrome (PKS) did not have detectable tetrasomy 12p due to an additional isochromosome 12p in an unstimulated blood specimen by interphase FISH or array CGH analysis. The diagnosis of PKS was made through these methods solely