Journal article

Pallister-Killian Syndrome Caused by Mosaicism for a Supernumerary Ring Chromosome 12p

Alison Yeung, David Francis, Olivia Giouzeppos, David J Amor

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2009

Abstract

Pallister-Killian syndrome (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe intellectual impairment, characteristic facial features, and variable structural anomalies. The characteristic cytogenetic abnormality in PKS is a supernumerary isochromosome 12p that confers mosaic tetrasomy. We describe a female child with PKS in whom tetrasomy 12p resulted from a supernumerary ring chromosome containing two copies of chromosome 12cen --> p13, a novel cytogenetic finding. The ring chromosome exhibited tissue-limited mosaicism, being absent in blood but detected in 38% of buccal mucosa cells and 41% of skin fibroblasts. Our patient demonstrated the typical dysmorphic char..

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