XWH - 11 - 1 - 0318 TITLE : De Novo Chromosome Copy Number Variation in Fanconi Anemia - Associated Hematopoietic Defects

XWH - 11 - 1 - 0318 TITLE : " De Novo Chromosome Copy Number Variation in Fanconi Anemia - Associated Hematopoietic

De Novo Chromosome Copy Number Variation in Fanconi Anemia - Associated Hematopoietic Defects W 81 XWH

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.

Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal population variance. However, larger CNVs, which often arise de novo, are frequently associated with human disease. A genetic contribution has long been...

Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects

Atrioventricular septal defects (AVSDs) are a frequent but not universal component of Down syndrome (DS), while AVSDs in otherwise normal individuals have no well-defined genetic basis. The contribution of copy number variation (CNV) to specific congenital heart disease (CHD) phenotypes including AVSD is unknown. We hypothesized that de novo CNVs on chromosome 21 might cause isolated sporadic A...

DNA Damage in Leukocytes from Fanconi Anemia (FA) Patients and Heterozygotes Induced by Mitomycin C and Ionizing Radiation as Assessed by the Comet and Comet-FISH Assay

Background: Lymphocytes of Fanconi anemia (FA) show an increased sensitivity to the alkylating agents such as mitomycin C (MMC), but their responses to gamma-irradiation is controversial. The extent of DNA damage in leukocytes of FA patients following irradiation and MMC treatment was studied at cellular and single chromosome level. Methods: DNA damage induced by gamma-rays and MMC was measure...