09
Dec
Darius Jackson – chromosome 13q deletion diagnosis – his story
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Darius’ Story Darius Jackson is my 29 year old young adult son born with Chromosome Deletion 13q 31-32. Shortly after his birth, my husband and I were given his chromosome disorder diagnosis. I remember that moment as it was yesterday, but I can’t tell you all that was said after... Read More
05
Dec
Tremor is a main feature of 9p13 deletion syndrome
New research publication discusses the clinical phenotype of chromosome 9p13 deletion syndrome with tremor as a cardinal manifestation. The distal deletion of chromosomal 9p has been well studied. However, proximal deletions of 9p are far less common, with only a few cases having been published. This study focuses on two... Read More
19
Nov
Silver-Russell Syndrome and 12q14.3 microdeletion
Silver-Russell Syndrome (SRS) is a genetic disorder causing failure with prenatal and postnatal growth. Other common characteristics of SRS include a larger head at birth, protruding forehead in early life, body asymmetry and substantial feeding difficulties. SRS can be caused by different genetic mechanisms. The most common abnormalities are related... Read More
07
Nov
CDO Fall 2020 Newsletter
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
Using genomic analysis to define the molecular causes of symptoms in patients with Chromosome 9 P Minus Syndrome
Using genomic analysis to define the molecular causes of symptoms in patients with Chromosome 9 P Minus Syndrome Research Site: Washington University School of Medicine, St. Louis, Missouri USA The goal of our research project is to identify the specific genes that are deleted in people with 9 P Minus... Read More
