Colour Doppler echocardiographic (CDE) assessment of tricuspid regurgitation (TR) has been limited by the lack of an accepted model against which it can be compared. Angiography is said to be inadequate because catheter placement across the tricuspid valve could induce artifactual TR. Thirty-five consecutive patients with left-sided valvulopathy and recent heart failure were studied.
View Article and Find Full Text PDFThis cytogenetic study deals with a family in which some members are carriers of 15p+ polymorphism variant, with an unusually elongated short arm. The chromosomal marker segregates in three generations, duplicating its length but without phenotypic manifestation in the carriers. An analysis by using banding techniques shows us the characteristics of the p+ region and its transmission within the family.
View Article and Find Full Text PDFWe report a child affected with the Romano-Ward syndrome (long QT, normal hearing), born from a mother affected with the Jervell and Lange-Nielsen syndrome (long QT plus deafmutism). We discuss the possible pathogenetic reasons for this uncommon association.
View Article and Find Full Text PDFSeveral investigators have reported in vitro instability of ring chromosomes. We have evaluated the clinical and cytogenetic course over 8 years in a patient with ring chromosome 6 and found stability in this ring chromosome. The different cell lines remained constant, and the phenotype showed little variation.
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