Pallister Killian syndrome [Supplementary Concept]
A rare chromosome disorder caused by MOSAICISM for TETRASOMY of chromosome 12 p; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short (p) arm of chromosome 12. Clinical features include HYPOTONIA at birth through childhood, INTELLECTUAL DISABILITY, distinctive FACIES, sparse hair, unusual PIGMENTATION, and other morhpologic abnormalities. OMIM: 601803
Date introduced: August 25, 2010
MeSH Unique ID: C538105
Heading Mapped to:
Entry Terms:
- Teschler-Nicola-Killian Syndrome
- Pallister-Killian Syndrome
- Pallister-Killian Mosaic Syndrome
- Tetrasomy 12p, mosaic
- Isochromosome 12p syndrome
- Hexasomy 12p, Mosaic