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.
Keywords
Publication details
- DOI
- 10.5001/omj.2019.47
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Elsheikh, A., Al Shehhi, M., Goud, T. M., Itoo, B., & Al Harasi, S. (2019). Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review. Oman Medical Journal. https://doi.org/10.5001/omj.2019.47
MLA 9
Elsheikh, Afaf, et al. "Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review." Oman Medical Journal, 2019. https://doi.org/10.5001/omj.2019.47.
Chicago (author–date)
Elsheikh, Afaf, Maryam Al Shehhi, Tadakal Mallana Goud, Bashir Itoo, and Salma Al Harasi. 2019. "Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review." Oman Medical Journal. https://doi.org/10.5001/omj.2019.47.
Harvard
Elsheikh, A., Al Shehhi, M., Goud, T. M., Itoo, B. and Al Harasi, S. (2019) 'Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review', Oman Medical Journal. doi:10.5001/omj.2019.47.
Vancouver
Elsheikh A, Al Shehhi M, Goud TM, Itoo B, Al Harasi S. Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review. Oman Medical Journal. 2019. doi:10.5001/omj.2019.47
IEEE
A. Elsheikh, M. Al Shehhi, T. M. Goud, B. Itoo, and S. Al Harasi, "Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review," Oman Medical Journal, 2019, doi: 10.5001/omj.2019.47.