A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16

Hydrops Fetalis due to Kell Alloimmunization: A Perinatal Approach to a Rare Case

OBJECTIVE While routine administration of rhesus (Rh) immunoglobulin has significantly reduced the incidence of Rh alloimmunization, maternal alloimmunization to other red cell antigens remains a contributor to perinatal morbidity and mortality. Although the Kell antigen is seen on the red cells of only 9% of the general population, attention to Kell antibodies continues to increase. CASE REP...

Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis.

Hemoglobin Barts hydrops fetalis (homozygous a-thalassemia) results from deletion of all 4 a-globin genes. It was previously considered a universally fatal condition; however,with recent advances in prenatal care and the availability of intrauterine blood transfusions, an increasing number of patients are now surviving into adulthood. Similar to patients with transfusion-dependent thalassemia d...

Hydrops fetalis due to abnormal lymphatics.

A case of generalised lymphatic abnormality that presented with hydrops fetalis is described. This seems to be the first such case reported.

Myoclonus-dystonia due to maternal uniparental disomy.

BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...

Maternal Uniparental Disomy of Human Chromosome 7