Effect of Chromosomal Copy Number Variations on Congenital Birth Defects and Human Development Disorders




Santos, Lane Johanna Jaeckle

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Congenital birth defects are the leading cause of death in the first year of life and the majority of severe congenital anomalies are the result of changes in chromosomal number or structure. The genetic basis of several different congenital malformations including heart defects and urogenital/anorectal defects were explored. A critical region for hypospadias, penoscrotal transposistion and imperforate anus commonly seen in chromosome 13q deletion syndrome was refined, implicating loss of EFNB2 as a possible cause of their formation. Array comparative genomic hybridization was used to show that a significant number of children with congenital heart defects harbor cryptic chromosomal copy number variants, and patients presenting with additional neurological anomalies such as developmental delay highly increase the likelihood of discovering such copy number variants. A novel microdeletion syndrome was discovered using array comparative genomic hybridization that deletes 260 kb on chromosome Xq24 and includes the mitochondrial adenine nucleotide translocase, ANT2. This is the first described mitochondrial disorder characterized by both mitochondrial dysfunction and congenital heart defects and implicates mitochondrial dysfunction as the basis for certain congenital birth defects.

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