30
Aug

Jacobsen Syndrome – new survey hopes to address parent concerns about lifestyle and social options

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 respiratory system. Due to the...
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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 abnormalities and defects involving the...
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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​ ​of​ ​symptoms,​ ​the​ ​severity​ ​differs​...
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23
Aug

Gracyn’s Story

My daughter Gracyn was born August 11, 2014. We knew something wasn’t going to be right from the time I was 16 weeks pregnant, the perinatologist told us that she had a bright spot on her heart, which was an indicator for Down Syndrome. We went forward with Harmony testing to see if any syndromes...
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