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Article

Chromosome structure deficiencies in MCPH1 syndrome.

Chromosoma - 1 Dec 2015

Arroyo M, Trimborn M, Sánchez A, Hirano T, Neitzel H, Marchal J A

Abstract excerpt

Mutations in the MCPH1 gene result in primary microcephaly in combination with a unique cellular phenotype of defective chromosome condensation. MCPH1 patient cells display premature chromosome condensation in G2 phase of the cell cycle and delayed decondensation in early G1 phase, observable as an increased proportion of cells with prophase-like appearance. MCPH1 deficiency thus appears to uncouple the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25845520
DOI: 10.1007/s00412-015-0512-2

Genes

MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Chromosome structure deficiencies in MCPH1 syndrome.PMID 25845520Read ↗

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