De novo duplication of 2q is very rare. Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. To our knowledge and search in English literature there are less than 20 reported cases of isolated 2q duplication. Hereby we introduce a 4.5-year-old Iranian boy of a non-consanguineous marriage who was referred ...

background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement re...

This work describes a family with Duchenne muscular dystrophy (DMD) rare case of symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis provide genetic counseling. secondary suggest the mechanisms causing complex structural variant (cxSV) identified. To accomplish this, we used multi-technique algorithm including segregation analysis, Multiplex Ligation-dependent P...

It has been established that the Y chromosome carries genes required for spermatogenesis and male fertility. For many decades worldwide screening for gene identification has been conducted in research laboratories. However, it has been a difficult process in identifying such genes (i.e. causative mutations) which could explain the phenotypic variation and could be potentially used as markers fo...

We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding) performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FIS...

Abstract Endemic (range restricted or precinctive) plant species are frequently observed to exhibit polyploidy (chromosome set duplication), which can drive shifts in ecology for angiosperms, but whether endemism is generally associated with throughout the flowering plants has not been determined. We tested hypothesis that more frequent and pronounced (higher evident ploidy levels) recently evo...