Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-021-00569-8
Abstract: Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition,… read more here.
Keywords: paternal uniparental; case; prenatal diagnosis; complete paternal ... See more keywords
Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.691761
Abstract: The Kagami–Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal uniparental… read more here.
Keywords: uniparental disomy; paternal uniparental; diagnosis; ogata syndrome ... See more keywords