Microdeletion and Contiguous Gene Deletion Syndromes: Clinical Manifestations Diagnosed at Damascus University Children’s Hospital
Microdeletions involve loss of small chromosome regions, the largest of which are detectable only with prophase chromosome studies and molecular methods. For submicroscopic deletions, the missing piece can only be detected using molecular methodologies such as DNA-based studies (e.g., CMA, FISH).
Microdeletions usually involve regions that include several genes, so the affected individuals can have a distinctive phenotype depending on the number of genes involved. When such a deletion involves more than a single gene, the condition is referred to as a contiguous gene deletion syndrome.
We will present in this presentation some of Microdeletion and Contiguous Gene Syndromes and Their Clinical Manifestations which have been diagnosed in Damascus University Children’s Hospital.
Keywords:
microdeletion; FISH; CMA; Syndrome