How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
Sign Up to like & getrecommendations! Published in 2020 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-020-03560-5
Abstract: In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based… read more here.
Keywords: know sperm; class; chromosomes robertsonian; sperm chromosomes ... See more keywords
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-025-00722-7
Abstract: We report on a consanguineous family with two infertile sisters with oocyte arrest and prematurely condensed sperm chromosomes. A genome-wide linkage scan and exome sequencing revealed a homozygous variant in the gene for the thyroid… read more here.
Keywords: gene; oocyte arrest; sperm chromosomes; trip13 ... See more keywords