Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.
In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their contours. The observed abnormalities are interpreted as evidence for the presence of a genetically determined disturbance affecting the normal mechanisms for pairing and disjoining of sister chromatids.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002842:Chromatids / Q000648:ultrastructure*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D008297:Male; D008677:Metaphase; D011418:Prophase; D013577:Syndrome