A girl displaying characteristic facial features of Jacobsen syndrome
Specialty
Medical genetics
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder.[1] The deletion may range from 5 million to 16 million deleted DNA base pairs.[2] The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be.
People with Jacobsen syndrome have serious intellectual disabilities, dysmorphic features, delayed development and a variety of physical problems including heart defects. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome.[3]
Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications.[4]
^Reference, Genetics Home. "Jacobsensyndrome". Genetics Home Reference.
^"Jacobsen Syndrome". prezi.com.
^Favier, Remi; Akshoomoff, Natacha; Mattson, Sarah; Grossfeld, Paul (1 September 2015). "Jacobsen syndrome: Advances in our knowledge of phenotype and genotype". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 169 (3): 239–250. doi:10.1002/ajmg.c.31448. PMID 26285164. S2CID 10194565.
Jacobsensyndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder...
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found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in...
partial tetrasomy 15q, or inverted duplication 15 (inv dup 15). Jacobsensyndrome, which is very rare. It is also called the 11q terminal deletion disorder...
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include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsensyndrome, also called the terminal...
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nonhomologous chromosomes). Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of...
S2CID 4782923. Skjeldal, O. H.; Von Tetzchner, S.; Jacobsen, K.; Smith, L.; Heiberg, A. (2007). "Rett Syndrome - Distribution of Phenotypes with Special Attention...
the national interests of the country. Jacobsen, Kurt (3–9 November 2001). "Afghanistan and the Vietnam Syndrome". Economic and Political Weekly. 36 (44):...
a variety of syndromes (for a review, see ). For example, breakage at or near the FRA11b locus has been implicated in Jacobsensyndrome, which is characterized...
chromosome band 11q23, a locus associated with Gilles de la Tourette and Jacobsensyndromes. Some intriguing changes in the gene structure of DSCAM have occurred...
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