A Novel Unbalanced Chromosome 8 Translocation with Multiple Congenital Malformations

Unbalanced translocation is estimated to be responsible for about 1% of developmental delay and intellectual disabilities. It is inherited from parent with balanced translocation or appears as a new mutation “Denovo”. Offsprings of balanced translocation’s parents usually display 46 chromosomes including the derivative chromosome and usually partially trisomic and partially monosomic as well. Partial trisomy 8 is responsible for most of the phenotypic features in our case report.