A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

Balanced Reciprocal Translocation in A Case of Recurrent Miscarriage

Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with a history of five consecutive blighted ova and an offspring with three cell lines of different genotypes. We assessed parental karyotypes and identified a het...

Management of anesthesia in a patient with ruptured abdominal aortic aneurysm: A case report

Introduction: Abdominal aortic aneurysm is a multifactorial condition which associated with aging and atherosclerosis. During aneurysm surgery, hypotension after aortic clamp removing occure commonly that require specific treatments. This case report showes administration of blood and hemodynamic control methods after aortic unclumping during aortic aneurysm surgery. Patient: A 75–years-o...

Postoperative chylothorax in patients with a thoracic aortic aneurysm.

OBJECTIVES Postoperative chylothorax in patients with a thoracic aneurysm is generally infrequent. We report a mode of surgery to reduce the incidence of paraplegia. We review our experience with chylothorax after resection of an aneurysm to find its cause and to evaluate the success of management. PATIENTS AND METHODS For descending thoracic aneurysms, intercostal arteries in the aneurysm we...

Thoracic Aortic Aneurysm