08
Sep
Jacobsen Syndrome
0 Comment
Garriz-Luis et al. “Clinical and neuropsychological characterization of Jacobsen syndrome (del11q)”. “Journal of Neurodevelopmental Disorders” 2026, v. 18:4. Jacobsen syndrome is a chromosomal disorder characterized by loss of the terminal end of chromosome 11q. Individuals with Jacobsen syndrome are characterized by intellectual disability, developmental delays, growth delay, behavioral issues,... Read More
02
Oct
Jacobsen syndrome hematological comorbidities
Jacobsen syndrome and hematological comorbidities – cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow. Jacobsen syndrome is a genetic disorder caused by deletions of the distal segment of chromosome 11q. It manifests in a variety of physical malformations and hematological comorbidities, mainly thrombocytopenia, where individuals... 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
