22
Jul
Pure duplication of distal 19p13.3
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The genotype-phenotype correlation of 19p13.3 duplications reported in literature is difficult to characterize because of the inconsistency in the size and gene content. Many reported duplications are the result of a translocation and thus have contributory genomic deletion contaminating the phenotype. Bain et al. introduce a distal 2.6 Mb duplication... Read More
22
Jul
Mowat-Wilson syndrome chromosome 2 deletions
Mowat-Wilson syndrome and chromosome 2 deletions Mowat-Wilson syndrome (MWS) caused by mutations of the ZEB2 gene (or deletions of 2q22 chromosomal segment where this gene is located) is characterized by microcephaly, distinctive facial features, Hirschsprung disease, developmental delay, some other congenital anomalies, epilepsy, and behavioral problems. Recent publications by Liang... Read More
11
Jul
Alagille syndrome and deletion 20p12
Alagille Syndrome and deletion 20p12 Alagille syndrome is an autosomal dominant disorder that affects several bodily systems resulting in liver, cardiac, ocular, skeletal, vascular, and renal abnormalities. Alagille syndrome is usually (95%) caused by malfunction of the JAG1 gene located on the short arm of chromosome 20 (20p12 region). Although... Read More
11
Jul
Charge syndrome
CHARGE syndrome is a rare autosomal dominant condition that is estimated to occur in 1 in every 10,000 births1. This syndrome is caused by mutations or deletions of the CHD7 gene, located on the long arm of chromosome 8 (8q12 segment). CHARGE syndrome is an acronym for the six key... Read More
