Pallister-Killian Syndrome

Author(s):

Bita Bozorgmehr , Roxana Kariminejad , Seyed Hassan Tonekaboni , Navid Almadani , Ariana Kariminejad

Message:
Abstract:
Pallister-Killian Syndrome is one of the etiologies of severe intellectual disability with a peculiar face, caused by mosaicism for tetrasomy of chromosome 12p. It is characterized by severe mental retardation, hypotonia, sparse bitemporal hair, sparse eyebrows and eye lashes, a coarse face, hypertelorism, chubby cheeks, cupid bow lips and no speech. In this article, we report a 3-year-old girl with severe mental retardation, no speech and a peculiar face. CGH array documented Pallister-Killian Syndrome.
Language:
Persian
Published:
Genetics in the Third Millennium, Volume:9 Issue: 3, 2012
Page:
2521
https://magiran.com/p979490