An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion
Nancy Jameson is one of around 200 people worldwide to have the chromosome abnormality 11Q Terminal Deletion
Disorder - also known as Jacobsen Syndrome.
7Mb terminal deletion
encompassing the interval 199,112bp-6,926,078bp at chromosome regions 9p24.
of chromosome 5p in a patient with phenotypical features of LujanFryns syndrome.
This fusion can be associated with large terminal deletions
, a process where portions of the chromosome or DNA sequences are missing.