Journal of Down Syndrome & Chromosome Abnormalities

Journal of Down Syndrome & Chromosome Abnormalities
Open Access

ISSN: 2472-1115

+44 1223 790975

Sahima Jaiswal

Department of Genetics, University of Delhi, New Delhi, India

  • Short Communication   
    Jacobsen Syndrome its Pathophysiology, Epidemiology, Diagnosis, Management and Treatment
    Author(s): 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, immunologic.. View More»
    DOI: 10.35248/2472-1115.21.7.176

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