Month

August 2017

30
Aug

Summer 2017 Newsletter – Issue no. 79

Hello everyone. Hope you are all having a wonderful summer – enjoying family vacations, and with any luck, a slower pace during these warmer months. To that end, if you do have time, check out the Book Corner below. All our recommendations are focused on the many mysteries of genetics…....
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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...
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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​...
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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...
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