Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
Journal Title: Oman Medical Journal - Year 2019, Vol 34, Issue 3
Abstract
Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable, ranging from mild to severe. Diagnosis is usually missed because of the low level of mosaicism in peripheral lymphocytes. We present a case of an Omani newborn with PKS with severe clinical presentation and multisystem involvement that lead to postnatal death. Karyotype and fluorescent in situ hybridization studies confirmed the presence of chromosome 12p duplication. This is the first case of PKS reported in the literature from Oman and the Arab world.
Authors and Affiliations
Afaf Elsheikh, Maryam Al Shehhi, Tadakal Mallana Goud, Bashir Itoo, Salma Al Harasi
Keywords
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- EP ID EP562635
- DOI 10.5001/omj.2019.47
- Views 66
- Downloads 0
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