ダウン症候群と染色体異常に関するジャーナル
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概要

Jacobsen Syndrome its Pathophysiology, Epidemiology, Diagnosis, Management and Treatment

Sahima Jaiswal

Jacobsen condition is a MCA/MR adjacent quality disorder brought about by halfway erasure of the long arm of chromosome 11. Until now, more than 200 cases have been accounted for. The predominance has been assessed at 1/100,000 births, with a female/male proportion 2:1. The most well-known clinical provisions incorporate pre-and post-pregnancy actual development impediment, psychomotor hindrance, and trademark facial dysmorphism (skull deformations, hypertelorism, ptosis, coloboma, downslanting palpebral crevices, epicanthal folds, wide nasal scaffold, short nose, angular mouth, little ears, low set posteriorly turned ears). Unusual platelet capacity, thrombocytopenia or pancytopenia are normally present upon entering the world. Patients ordinarily have abnormalities of the heart, kidney, gastrointestinal plot, genitalia, focal sensory system and skeleton. Visual, hearing, immunological and hormonal issues might be additionally present. The cancellation size goes from ~7 to 20 Mb, with the proximal breakpoint inside or telomeric to subband 11q23.3 and the erasure stretching out generally to the telomere. The cancellation is anew in 85% of detailed cases, and in 15% of cases it results from a lopsided isolation of a familial adjusted movement or from other chromosome modifications.