08
Jul
Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome 10q23 microdeletions
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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a genetic condition characterized by large head size, hamartomas, intestinal polyposis, and genital pigmentation. Intellectual disability is found is around half of BRRS patients as well. This disorder... Read More
26
Mar
Q&A: Special Needs Trusts
Q&A Special Needs Trusts (SNT) Special Needs Trusts (also called Supplemental Needs Trusts) are trust funds that are set up for the benefit of person with disabilities who qualifies for Supplemental Security Income or Medicaid. The purpose of the SNT is to provide for those “extras” that are not covered... Read More
15
Oct
How to read Cytogenetic Formulas after Array-CGH
Reading and understanding Cytogenetic Formulas after ARRAY-CGH may be complex. Under normal circumstances each pair of chromosomes has individual characteristics: they have a specific size (length)which is measured in the number of basepairs and a specific distribution of genes within each chromosome. Chromosomes of the same pair have to be... Read More
25
May
Inherited Microdeletions or microduplications – a benign finding?
Are inherited microdeletions or microduplications a benign finding or more complex? Small deletions or duplications of chromosomal material may be found upon examination of patients with several neurodevelopmental problems (autism, epilepsy, intellectual disability) or birth defects. In many instances the same chromosomal abnormalities are found in one of their apparently... Read More
25
May
1p35 deletion and PUM1 mutation
1p35 deletion and PUM1 mutation discussed in a newly published article. Development of the nervous system is a complex process that is tightly regulated by protein levels and expression. One protein involved in this process is produced by a gene PUM1, located in 1p35, a region within the short arm... Read More
