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PCC syndrome; premature chromosome condensation with microcephaly & mental retardation
Pathology:
- microcephaly
- misregulated chromosome condensation
- delay in post-mitotic chromosome decondensation
Genetics:
- associated with defects in MCPH1 gene
Clinical manifestations:
- microcephaly
- short stature
Laboratory:
- cytogenetics
- high number(10%-15%) of prophase-like cells
- poor-quality metaphase G-banding
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 606858
References
OMIM :accession 606858