30
Aug
Jacobsen Syndrome – new survey hopes to address parent concerns about lifestyle and social options
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Jacobsen syndrome (JS) or distal 11q deletion syndrome is a rare genetic disorder. The symptoms of this disorder involve thrombocytopenia, congenital heart defects, and intellectual disability. Although less common, other symptoms may include impairment of expressive language (verbal and nonverbal communication), vision problems, digestive issues, and infections of the upper... Read More
30
Aug
6q25.1 microdeletion, the TAB2 gene plays a key role in congenital heart defects
American Journal of Medical Genetics March 2017 Congenital heart defects (CHD) affect approximately 1.35 million infants each year. New technologies have revealed more genetic causes for CHD; one gene of interest is TAB2 (Full name: TGF-beta activated kinase 1/MAP3K7 binding protein 2) which, as the study finds, causes structural valve... Read More
30
Aug
22q11.2 deletion syndrome – new research into the wide variety and great variability of symptoms
Frontiers in Genetics May 2017 – 22q11.2 deletion syndrome has a wide variety of symptoms, including (but not limited to) congenital heart disease, hypocalcemia (where the blood has too little calcium), immunological disorders, and psychiatric disorders. Palatal, craniofacial, skeletal, and gastroenterological anomalies are also common symptoms. Along with the range... Read More
