Concept explainers
Case Summary:
A geneticist student noticed a newborn baby with some abnormalities in a painting during her visit to a museum and wondering whether this condition is a genetic disorder. After searching online, she learned that baby might be having RBS (Roberts syndrome) in which mitotic errors occur. These errors include the premature separation of the centromeres and other heterochromatic regions of homologs in metaphase instead of anaphase. RBS is caused by the ESCO2 gene’s mutant alleles that functions during cell division.
Characters in the case:
A geneticist student, a painting showing a woman (mother) and a newborn baby with some abnormalities.
Adequate information:
A newborn baby is having short arms and legs with some facial abnormalities.
To determine:
The role of the protein encoded by the ESCO2 and its affect after mutation.
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EBK ESSENTIALS OF GENETICS
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