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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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 cried most all day. She...
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30
Jan

Chromosome 7p22 deletion – symptoms directly caused by the loss of gene ACTB

Chromosome 7p22 deletion and associated symptoms directly caused by the loss of gene ACTB. 7p22 deletion – a deletion within the short arm of chromosome 7 – causes a number of symptoms, including developmental delay, intellectual disability, internal organ malformations (primarily within the heart and kidneys), and facial abnormalities. These facial abnormalities include dense eyelashes,...
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