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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/606858