Nota Clínica

Three cases of Pallister-Killian syndrome

L. Toledo-Bravo de Laguna, M. del Campo-Casanelles, A. Santana-Rodríguez, A. Santana-Artiles, I. Sebastián-García, J.C. Cabrera-López [REV NEUROL 2014;58:63-68] PMID: 24399622 DOI: https://doi.org/10.33588/rn.5802.2012665

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Volumen 58 | Number 02 | Nº of views of the article 30.639 | Nº of PDF downloads 718 | Article publication date 16/01/2014

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ABSTRACT

INTRODUCTION Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of chromosome 12p. CASE REPORTS. We present three new paediatric cases of this rare entity, its clinical features are described and a literature review is carried out.

CONCLUSIONS It is important to be familiar with the syndrome so that it can be diagnosed, since what commonly happens is that, without performing a skin biopsy or buccal smear, the chromosomal abnormality goes undetected if the classic cytogenetic techniques are used. Nowadays, the diagnosis can be performed in blood by means of CGH-array or SNP-array, although the chances of finding the chromosomal anomaly depend on the percentage of mosaicism. KeywordsDyschromia Intellectual disability Isochromosome i(12p)Mosaicism Pallister-Killian Tetrasomy 12p

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Nota Clínica

Three cases of Pallister-Killian syndrome

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