Tetrasomy 12p mosaicism (Q88285): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
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+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
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++2026-08-13T00:00:00Z
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@@ Property / Collection date: 13 August 2026 / rank @@
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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
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.