14
Sep
12q21 Interstitial Deletions Review of the Literature
0 Comment
The segment 12q21 is relatively large (21.2 Mb) but contains only 60 genes. Such low gene density allows the evaluation of the potential role of each gene. Recently a 1.6 Mb critical region (CR) has been determined for rare 12q21 deletions’ most commonly described clinical features. Recalcati et al. reported 7 new patients to 1)... Read More
15
Aug
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. It remains difficult to understand... Read More
15
Aug
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 info@chromodisorder.org
04
Aug
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 with LGS who have the... Read More
30
Jul
9p13.2 deletion, the PAX5 gene and the brain
9p13.2 and the PAX5 gene. Mutation or deletion of this gene causes a novel neurodevelopmental disorder. The clinical consequences of deletions of the distal part of 9p are well known. At the same time the significance of interstitial deletions of other areas of 9p are not so clear. The segment 9p13.2 includes the PAX5 gene.... Read More