25
May
Inherited Microdeletions or microduplications – a benign finding?
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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
2q33.1 deletion and SATB2 gene mutation or deletion
Newly published article discussing 2q33.1 deletion and SATB2 gene mutation or deletion. SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a region within the long arm of chromosome 2. The symptoms of SAS include developmental... 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
02
May
14q32 deletions and elevated cancer risk
Deletions within chromosome 14q32 – a region within the long arm of chromosome 14 – are rare. Because of this, research on this deletion is scarce. Symptoms of 14q32 deletions include intellectual disability, developmental delay, dysmorphic features, microcephaly (an abnormally small and underdeveloped head), and hypotonia (low muscle tone). Severity... Read More
27
Feb
Kenzie Kauble – a glimpse into an amazing child’s life
Kenzie Kauble’s Story: when we decided to have our second child we went through all the standard tests, ultrasounds, and doctor appointments. It was a normal pregnancy and delivery with no complications. We brought our beautiful daughter Kenzie home and noticed she was a rather fussy baby. In fact, she... Read More
