Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000031091
Abstract: Male infertility is a multifactorial condition that is closely associated with chromosomal abnormalities. Reciprocal chromosomal translocation (RCT) is a significant structural genetic abnormality. The specific mechanisms of forms of RCT affecting male infertility include the… read more here.
Keywords: q13; q13 q13; q13 q22; male infertility ... See more keywords
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-020-00489-z
Abstract: Background Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related… read more here.
Keywords: q13; spectrum disorder; autism spectrum; cnv seq ... See more keywords