Tetrasomy 12p mosaicism (Q88285): Difference between revisions
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13 August 2026
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Latest revision as of 14:28, 15 August 2026
Tetrasomy 12p mosaicism also known as Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p characterised by facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1495552441 |
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| English | Tetrasomy 12p mosaicism |
Tetrasomy 12p mosaicism also known as Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p characterised by facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia. |
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CID11:ID_1495552441
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dki-india-ID_1495552441
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Concluído
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13 August 2026
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