منابع مشابه
Jacobsen syndrome
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism...
متن کاملOcular findings in Jacobsen syndrome.
PURPOSE To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of...
متن کاملNuchal thickening in Jacobsen syndrome.
A routine detailed ultrasound examination performed at 20 weeks' gestation demonstrated the presence of nuchal thickening as an apparently isolated finding. The concentration of maternal alpha-fetoprotein was normal and the risk of Down's syndrome was 1 in 6800. Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(q23) found in Jacobsen syndrome. Fetal autopsy...
متن کاملBBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples
B iobanks 1 are well-organized repositories of biological material. They have become the fundamental resource for advancing medical research and constitute a major component of more generally understood bioresources. Yet they face a number of challenges to become more utilized on the national and global scale. These challenges range from fragmentation of data structure and sometimes even lack o...
متن کاملPlatelet storage pool deficiency in Jacobsen syndrome.
Jacobsen syndrome and Paris-Trousseau Syndrome share similar congenital anomalies, thrombocytopenia, giant platelet alpha granules resulting from fusion of smaller organelles, and an 11q terminal deletion at 11q23.3. Similarities in the two cohorts have suggested that the Paris-Trousseau Syndrome is a variant of Jacobsen syndrome, or the same disorder. The present study has pointed out a signif...
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ژورنال
عنوان ژورنال: Advanced Synthesis & Catalysis
سال: 2020
ISSN: 1615-4150,1615-4169
DOI: 10.1002/adsc.201901485