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 unaffected parents. It suggests a...
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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 delay, severe intellectual disability, behavioral...
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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 of chromosome 1. Evidence suggests...
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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 of these symptoms depends on...
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10
Apr

Spring 2018 Newsletter – Issue no. 80

Hello everyone, Spring is finally here and summer not far behind. And in just a few months, Rare Chromosome Disorder Awareness Week (June 17th – June 23rd) will be here too! Our theme this year is Help Us to Soar. Help CDO raise awareness and understanding of chromosome disorders. Our website will feature new graphics...
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