Tetrasomy 12p mosaicism (Q88285)
From determinar.ia.br - Determine suas informações
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. |
Statements
CID11:ID_1495552441
0 references
dki-india-ID_1495552441
0 references
Concluído
0 references
13 August 2026
0 references
