Tetrasomy 12p

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Tetrasomy 12p

Synonyms: Isochromosome 12p mosaicism | Isochromosome 12p syndrome | Pallister-Killian syndrome

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Tetrasomy 12p?

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