Tetrasomy 12p

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

Short femur

An abnormal shortening of the femur.


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PMID (PMCID)
7845885
 FEMALE Adult
Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish.
Wilson RD, Harrison K, Clarke LA, Yong SL.
Prenat Diagn. 1994;14(9):787-92.
The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia.