16
Mar
Chromosome 3q21 deletion and GATA2 gene mutation
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Chromosome 3q21 deletion and GATA2 gene mutation can cause immunodeficiency and other problems leading to cancer. The chromosomal segment 3q21 contains several genes, including the GATA2 gene. This gene encodes a zing finger transcription factor expressed in the precursors of several sorts of blood cells. Mutations of the GATA2 gene... Read More
16
Mar
Chromosome 7p12.3 microduplication
Chromosome 7p12.3 microduplication detected in an infant. The clinical consequences of a duplication in the 7p12 area are virtually unknown. The authors report on an 11-month old girl with an association of anal atresia, perineal hamartoma (which appeared as a polyp-like protrusion in the perineum) and facial dysmorphism. The patient... Read More
26
Dec
Chromosome 8p abnormalities studied in a group of individuals
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
