Cary Tiernan

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Maternal uniparental disomy (UPD) for chromosome 14 (upd(14)mat) has been associated with a distinct phenotype. We describe the first case of maternal uniparental isodisomy for chromosome 14 detected prenatally, in a pregnancy with mosaicism for trisomy 14 observed in both a chorionic villus sample (CVS) and in amniocytes. Detailed analysis of polymorphic(More)
This article describes 2 white male patients with probable splenic crisis caused by sickle cell trait after travel from sea level to a moderately high altitude. Both did well with return to lower altitude and conservative treatment. Although rare, this entity should be considered in patients presenting to the emergency department with left-sided chest or(More)
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