When a sex chromosome aneuploidy is diagnosed—views from a parent support organisation
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6222
Abstract: Prenatal diagnosis of sex chromosome aneuploidies (SCAs) has been increasing recent years, in connection with increased availability of cell-free DNA screening (NIPT). We discuss what parents are likely to find helpful when a SCA is… read more here.
Keywords: sex chromosome; diagnosis; support; chromosome aneuploidy ... See more keywords
Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6256
Abstract: Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic testing. This summary article serves as an update for… read more here.
Keywords: sex chromosome; prenatal diagnosis; chromosome aneuploidy;
10 Segmental cervical aplasia in a mare with mosaic X-chromosome aneuploidy
Sign Up to like & getrecommendations! Published in 2021 at "Reproduction, Fertility and Development"
DOI: 10.1071/rdv33n2ab10
Abstract: Segmental cervical aplasia is a congenital Mullerian abnormality characterised by the complete or partial failure of cervical development resulting from abnormal fusion of the Mullerian ducts to the urogenital sinus. In the present case report,… read more here.
Keywords: chromosome aneuploidy; mare; cervical aplasia; segmental cervical ... See more keywords
Chromosome instability in neuroblastoma: A pathway to aggressive disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.988972
Abstract: For over 100-years, genomic instability has been investigated as a central player in the pathogenesis of human cancer. Conceptually, genomic instability includes an array of alterations from small deletions/insertions to whole chromosome alterations, referred to… read more here.
Keywords: chromosome instability; instability; chromosome; chromosome aneuploidy ... See more keywords