18
Mar
Clinical features of 22q11.2 deletion syndrome
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Clinical features of 22q11.2 deletion syndrome also known as DiGeorge syndrome. The authors analyzed clinical manifestations of DiGeorge syndrome caused by deletion 22q11.2 in a large cohort of patients in one Israeli hospital. The studied group included 98 patients. Diagnosis was confirmed by cytogenetic examination in all cases. Males and... Read More
01
Sep
Smith-Magenis syndrome and new cardiac findings
This article discusses Smith-Magenis syndrome along with new functional cardiac findings and a review of the literature. It is known that some patients with Smith-Magenis syndrome (SMS) have congenital heart disease (CHD), but detailed examination of the cardiac function in SMS patients has not been performed. The authors examined 24... Read More
08
Feb
Chromosome 5q34-q35.2 microdeletion and congenital heart disease
An adult female with chromosome 5q34-q35.2 microdeletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease Microdeletions in the distal segment of chromosome 5q have rarely been reported in the literature with less than 20 published cases. Common features that have been identified in distal 5q... Read More
