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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