Tetrasomy 12p mosaicism (Q88285): Difference between revisions
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A tetrassomia 12p, também conhecida como síndrome de Pallister-Killian (SPK), é uma anomalia congênita múltipla rara/síndrome de deficiência intelectual causada por tetrassomia em mosaico limitada por tecido para o cromossomo 12p, caracterizada por dismorfismo facial, membro rizomélico curto, mãos e pés pequenos com hipoplasia ungueal. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
