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{{Infobox disease | Synonyms = Del(11)(qter),Distal deletion 11q,Distal monosomy 11q,Monosomy 11qter | Name = Jacobsen syndrome | Image = Jacobsen syndrome patient.JPG | Caption = Girl with Jacobsen syndrome | Field=Medical genetics | ICD10 = Q93.5 | ICD9 = 758.3 | ICDO = | OMIM = 147791 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | DiseasesDB = 31957 | Orphanet = 2308 | MeSH=D054868
Jacobseb Syndrome is a rare Chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. 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 170 upto 340 deleted genes. The severity of symptoms depends on the number of deletions. The more deletions there are more severe the symptoms are likely to be. People whith Jacobsen syndrome have seriousintellectual disabilities, Dysmorphic features,delayed development and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen,[2] and is believed to occur in approximately 1 out of every 100,000 births.
Signs and symptoms[edit]
Characteristics may include
- Heart defects
- Mild to severe intellectual disabilities
- Low-platelets (thrombocytopenia)
- Facial/skeletal (dysplasia)
- Wide-set eyes caused by trigonocephaly
- Folding of the skin near the eye (epicanthus)
- Short, upturned nose (anteverted nostrils)
- Thin lips that curve inward
- Displaced receding chin (retrognathia)
- Low-set, misshapen ears
- Permanent upward curvature of the pinkie and ring fingers (camptodactyly)
- Large great toes/Hammer toes
In addition, people tend to be shorter than average and have poor psychomotor skills.
Cause[edit]
The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete. However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described.[3]
One study also found less than half of the participants with Jacobsen syndrome were also diagnosed with an autism spectrum disorder.[4]
Diagnosis[edit]
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Treatment[edit]
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References[edit]
- ^ Reference, Genetics Home. "Jacobsensyndrome". Genetics Home Reference.
- ^ Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J (1973). "An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study". Hum. Hered. 23 (6): 568–85. doi:10.1159/000152624. PMID 4134631.
- ^ Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet 129A: 51-61.
- ^ Akshoomoff N, Mattson S, Grossfeld PD. 2015. Evidence for autism spectrum disorder in Jacobsen syndrome: Identification of a candidate gene in distal 11q. Genetics in Medicine, 17, 143–148.
Sources[edit]
- European Chromosome 11 Network - Support group for patients with chromosome 11 disorders, their families and relatives
- 11Q Research & Resource - U.S.-based support group for patients with chromosome 11 disorders, their families and relatives
Category:Autosomal monosomies and deletions Category:Rare diseases Category:Syndromes affecting the heart Category:Syndromes affecting blood Category:Syndromes with craniofacial abnormalities