Skip to main content
Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Figure 3

Absence of a prophase-like chromosome phenotype in MCPH2 deficiency. (A) Normal metaphase morphology (arrow) of a cultured lymphoblast in a cell line from the MCPH2 patient after induced mitosic arrest by colcemid. The chromosomes are condensed while the delimitation of the metaphase is irregularly shaped suggesting that there is no more nuclear membrane after its disintegration in prophase. Three other nuclei are stained rather homogeneously, typical of uncondensed chromatin in interphase nuclei (asterisks). (B) An MCPH1 lymphoblastoid cell line treated identically shows nuclei with typical prophase-like chromosome (PLC) morphology. Virtually all of the six nuclei reveal a meandering striped or banded chromatin structure characteristic of beginning chromosome condensation (best seen in the two marked nuclei). Despite prometaphase stage, they present with rounded delimitations (arrows) suggesting that they are bounded by a persisting nuclear membrane, a phenomenon that is designated as premature chromosome condensation (PCC). Giemsa stain.

Back to article page