By

Linda Sorg

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...
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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...
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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....
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