19
Oct

2q23.1 microdeletion – 3 families demonstrate significant variability of symptoms

Tadros S, Wang R, Waters JJ, et al. “Inherited 2q23.1 microdeletions involving the MBD5 locus”. Molecular Genetics and Genomics Medicine 2017, v. 5, 608-613. 2q23.1 microdeletion – or a deletion within the q23.1 region of chromosome 2 – is known to cause a number of symptoms, such as intellectual disability, developmental delay, seizures, behavioral problems,...
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15
Oct

Deletions of the FOXP1 gene determine clinical manifestations in patients with chromosome 3p13 deletion

Meerschaut I, Rochefort D, Revençu N, et al. “FOXP1-related intellectual disability syndrome: a recognisable entity”. J. Med. Genet. 2017, v. 54, 613-623. Patients with proximal short arm deletions of chromosome 3 (3p13) show intellectual disability (ID), speech and language issues, neurodevelopmental delay, spasticity (increased muscle tone), contractures (shortening and hardening of muscles), mild structural brain...
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15
Oct

Chromosome 9p21.3 deletion and cancer risk – life expectancy and treatment options

Vengoechea J, Tallo C. “A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges”. J. Med. Genet. 2017, v. 54, 682-684. Chan AK, Han SJ, Choy W et al. “Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a...
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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…. interesting and absorbing reading. We...
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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 respiratory system. Due to the...
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