26
Dec
Chromosome 8p abnormalities studied in a group of individuals
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Chromosome 8p abnormalities studied in a group of individuals – 8p deletion, inversions and duplications. The short arm of chromosome 8 includes several low copy repeat regions that predisposes to a non-allelic homologous recombination. As a result structural abnormalities of this region are much more frequent than for similar size segments... Read More
26
Dec
TAB2 deletions and variants chromosome 6q25.1
TAB2 deletions and variants located at chromosome 6q25.1. Traditionally the loss of the TAB2 gene, located at 6q25.1, is linked to heart problems (cardiomyopathy and congenital heart defects). The authors report 11 previously non-described patients with deletions of 6q25 involving TAB2 and compare their manifestations to 25 patients known from... Read More
17
Dec
Chromosome 12q14 deletions and review of the literature
Chromosome 12q14 deletions and review of the literature to determine the identification of relevant disease causing genes in these patients. Deletions of 12q14 are relatively well known. The authors report two boys with non-overlapping deletions in this area. The first one with a 4.4 Mb deletion in 12q14.2q15 had short... Read More
02
Dec
EPHA7 gene located at 6q16.1 is associated with a neurodevelopmental disorder
EPHA7 gene located at 6q16.1 is associated with a neurodevelopmental disorder The ephrin receptor A7 (EPHA7) is one of the genes involved in the formation of dendrites during brain development. This gene is located at 6q16.1. Only one child with a deletion of this gene has been reported so... 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
