19
Oct
2q23.1 microdeletion – 3 families demonstrate significant variability of symptoms
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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,... Read More
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... Read More
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... Read More
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... 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
