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Tetrasomy 12p
rarePallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
- Identifiers
- MONDO:0011146 OMIM:601803Orphanet:884
- Part of
- Overgrowth syndromePartial trisomy/tetrasomy of the short arm of chromosome 12Syndromic disease
- Also known as
- chromosome 12, Isochromosome 12p syndrome · Isochromosome 12p mosaicism · Isochromosome 12p syndrome · Killian syndrome · Killian Teschler-Nicola syndrome
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