MeSH Browser

MeSH Supplementary: Pallister Killian syndrome
Unique ID: C538105
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538105
Entry Term(s): Hexasomy 12p, Mosaic; Isochromosome 12p syndrome; Pallister-Killian Mosaic Syndrome; Pallister-Killian Syndrome; Teschler-Nicola-Killian Syndrome; Tetrasomy 12p, mosaic
Registry Number: 0
Heading Mapped to: Chromosomes, Human, Pair 12; *Chromosome Disorders
Frequency: 77
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Pallister Killian syndrome MeSH Supplementary Concept Data 2024