Tetrasomy 12p

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

Micromelia

The presence of abnormally small extremities.


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PMID (PMCID)
20812182
 FEMALE Adult
First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities.
Mourali M, El Fekih C, Dimassi K, Fatnassi A, Zineb NB, Oueslati B.
Tunis Med. 2010;88(9):666-9.
To our knowledge, we present the first case of early prenatal diagnosis of Pallister Killian Syndrome due to the presence of an increased nuchal translucency, a diaphragmatic hernia, a typical facial dysmorphism and a micromelia of a predominantly rhizomelic type .