02
Oct
19q microduplication neuropsychiatric phenotype
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19q microduplication segregating with a neuropsychiatric phenotype in a three-generation family: towards the definition of a critical region with variable expressivity. Chromosomal copy number variants (CNVs) can cause neurodevelopmental disorders in some cases as a syndromic form and other cases as a non-syndromic neurodevelopmental disorder that can act as moderate-penetrant... Read More
02
Oct
Jacobsen syndrome hematological comorbidities
Jacobsen syndrome and hematological comorbidities – cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow. Jacobsen syndrome is a genetic disorder caused by deletions of the distal segment of chromosome 11q. It manifests in a variety of physical malformations and hematological comorbidities, mainly thrombocytopenia, where individuals... Read More
01
Oct
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome Almost 50 years ago, in 1975, Simpson et al1. reported a new syndrome manifested by overgrowth, coarse facial features and developmental delay. The most typical picture was found in boys, whereas their mothers usually revealed much milder defects, if any. It definitely showed that it is an X-linked... Read More
