Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors
Phelan-McDermid Syndrome phenotypic variability and its link to environmental factors. Phelan-McDermid Syndrome (PMS) is categorized by different genetic abnormalities in the SHANK3 gene, chromosomal rearrangements and/or deletion at 22q13. The size of deletion may vary from 100 Kb to over 9 Mb and large deletions may involve many additional genes.... Read More
CDO Summer 2022 Newsletter now available!
Chromosome Disorder Outreach’s Summer 2022 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Summer 2022 issue here. Questions, comments or to submit an article for an upcoming issue contact email@example.com
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
Though Langer-Giedion Syndrome (LGS) is described as a chromosomal disorder caused by a deletion at 8q23q24 which encompasses genes TRPS1, EXT1, and RAD21, there remains to be a strong genotype-phenotype correlation because molecular genetic testing of LGS patients is not often reported in literature. The authors report two unrelated patients... Read More