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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22
Jan

7p15 deletion as the cause of hand-foot-genital syndrome

7p15 deletion as the cause of hand-foot-genital syndrome. Hand-foot-genital syndrome (HFGS) is a rare genetic disorder that is characterized by malformations in the hands, feet and the genitourinary tract. The most frequent limb abnormalities in HFGS include short thumbs and fingers, small feet, clinodactyly (curvature) of the fifth finger, and hallux valgus (a deformity of...
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