Roberts syndrome is a rare inherited disorder characterizedby facial defects as well as severe limb shortening, extradigits, and deformities of the knees and ankles. A cytogeneticanalysis of patients with Roberts syndrome, using Giemsastaining or C-banding, reveals that there is premature separationof centromeres and other heterochromatic regions during mitoticmetaphase instead of anaphase. A couple with an affected infant iscontacted by a local organization dedicated to promoting researchon rare genetic diseases, asking if they can photograph the infantas part of a campaign to obtain funding for these conditions. Thecouple learned that the privacy of such medical images is not wellprotected, and they often are subsequently displayed on publicwebsites. The couple was torn between helping to raise awarenessand promoting research on this condition and sheltering theirchild from having his images used inappropriately. Several interestingquestions are raised. In Roberts syndrome, how could premature separation of centromeres during mitosis cause the wide range of phenotypic deficiencies?

Question

Roberts syndrome is a rare inherited disorder characterized
by facial defects as well as severe limb shortening, extra
digits, and deformities of the knees and ankles. A cytogenetic
analysis of patients with Roberts syndrome, using Giemsa
staining or C-banding, reveals that there is premature separation
of centromeres and other heterochromatic regions during mitotic
metaphase instead of anaphase. A couple with an affected infant is
contacted by a local organization dedicated to promoting research
on rare genetic diseases, asking if they can photograph the infant
as part of a campaign to obtain funding for these conditions. The
couple learned that the privacy of such medical images is not well
protected, and they often are subsequently displayed on public
websites. The couple was torn between helping to raise awareness
and promoting research on this condition and sheltering their
child from having his images used inappropriately. Several interesting
questions are raised. In Roberts syndrome, how could premature separation of centromeres
during mitosis cause the wide range of phenotypic
deficiencies?

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