Jacobsen syndrome
Evidence-based neurology checklist on jacobsen syndrome: Genetics This is caused by a terminal deletion of chromosome 11q It occurs twice as frequently in females Dysmorphic features Neurological features Skeletal features Cardiac features Gastrointestinal features Genitourinary features…
Genetics
- This is caused by a terminal deletion of chromosome 11q
- It occurs twice as frequently in females
Dysmorphic features
Neurological features
Skeletal features
Cardiac features
Gastrointestinal features
Genitourinary features
Haematological and immune features
Differential diagnosis
Magnetic resonance imaging (MRI): features
References
- Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009; 4:9.
- Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med 2015; 17:143-148.
- Ysunza A, Shaheen K, Aughton DJ, Micale MA, Merson R, Rutkowski K. Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature. Int J Pediatr Otorhinolaryngol 2013; 77:1601-1605.
- Blazina Š, Ihan A, Lovrečić L, Hovnik T. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): case report and literature review on immunodeficiency in Jacobsen syndrome. Am J Med Genet A 2016; 170:3237-3240.
- Patel H, Kumar A, Raymond G, Mainali G. Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain. Neurology 2019; 92:e1665-e1666.
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