Ready, Steady, Go—The Current State of Carriership Status Determination and Prenatal Diagnosis of Haemophilia a in Bulgaria

On a Break with the X: The Role of Repair of Double-Stranded DNA Breaks in X-Linked Disease

“…Subsequent non-allelic homologous recombination between the generated regions of homology results, in turn, in translocations, deletions and inversions, the direct result being a high male/female ratio of germline mutations in the X chromosome (96,102). the idea that diseases traditionally associated in the public mind with female transmission actually may result from a mutation originating in males apparently still presents quite a challenge for genetic counseling for X-linked disease of the affected families (6,32,73,77). the specificities of the genomic rearrangements resulting in some of these common conditions are presented below.…”