07
Nov
CDO Fall 2020 Newsletter
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CDO’s Fall 2020 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes a family spotlight, additional resources, Ask the Doctor, new research updates and in this issue an excerpt from a new book Raising a Rare Girl by Heather Lanier.... Read More
20
Aug
CDO’s Summer 2020 Newsletter
CDO’s Summer 2020 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes family stories, additional resources, Ask the Doctor, new research updates and more. To submit an article, story or other item of interest for an upcoming issue email info@chromodisorder.org... Read More
23
Apr
Spring 2019 Newsletter – Issue No. 83
‘Seeing’ the first signs of Spring My daughter Elizabeth turned 27 in March. Along with coping with many other physical and medical challenges, Elizabeth is also visually impaired (see full issue for a resource that she really loves). Since she is non-verbal, it has always been difficult to determine the... Read More
02
Nov
De Novo Mutations of the CCNK gene cause a Neurodevelopmental Disorder
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism Cytogenetic location 14q32.2 Neurodevelopment is a complex process that requires the coordination and regulation of several cellular activities. This regulation is maintained through precise control of when genes are transcribed. Gene transcription is the process of... 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
