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Pallister Killian syndrome MeSH Supplementary Concept Data 2024


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 Preferred
Hexasomy 12p, Mosaic Related
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