Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome.

[DNA quantification and triploidy phenotype in the second and third trimesters of pregnancy].

Triploidy is often associated with early abortions, but may evolve during the second trimester taking a peculiar phenotype. The conditions of diagnosis or abortion do not always let the possibility of karyotyping. Thus, DNA quantification takes all its value.

Discrepancies of DNA content of various solid tumours before and after culture measured by image analysis. Comparison of cytogenetical data.

Parallel cytophotometric ploidy studies and cytogenetic analysis were performed on 15 various human solid tumours. The quantification of DNA by image analysis was carried out on cytological imprints of fresh tumours and on smears obtained after cell culture. The results obtained by both sets of calculations were compared with each other and with the cytogenetic results.

Non radioactive single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene using the Pharmacia PhastSystem.

The authors report here the use of the PhastSystem (Pharmacia) to perform the single strand conformation polymorphism analysis of polymerase chain reaction products of the exon 11 of the CFTR gene. It provides a rapid (2 hours) safe and reliable technique for the development of carrier testing for individuals or couples with a family history of cystic fibrosis.