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  • Perinatal/Neonatal Casebook
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Perinatal/Neonatal Case Book

Tissue-Limited Mosaicism in Pallister-Killian Syndrome — A Case in Point

Journal of Perinatology volume 22, pages 420–423 (2002)Cite this article

Abstract

We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

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Acknowledgements

We thank Grace Tan, consultant pediatric surgeon, National University Hospital, for the diaphragmatic hernia repair, and C.L. Foo, consultant plastic surgeon, Singapore General Hospital, for the cleft palate repair.

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Authors and Affiliations

  1. Department of Neonatology, Singapore General Hospital, Singapore, Singapore

    S Choo MMed (Paed) & LY Ho MMed (Paed), FAMS

  2. Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore

    SH Teo MMed (Paed), FAMS

  3. Department of Pathology, Singapore General Hospital, Singapore, Singapore

    M Tan & MH Yong MSc (Med Sci)

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  1. S Choo MMed (Paed)
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  4. MH Yong MSc (Med Sci)
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  5. LY Ho MMed (Paed), FAMS
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Choo, S., Teo, S., Tan, M. et al. Tissue-Limited Mosaicism in Pallister-Killian Syndrome — A Case in Point. J Perinatol 22, 420–423 (2002). https://doi.org/10.1038/sj.jp.7210712

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