17PH+ IN NOVE SOGGETTI CON VARI FENOTIPI

Translated title of the contribution: Evidence of 17 ph+ in nine individuals with various phenotypes

G. Gimelli, C. Cuoco, F. A. Bignone, R. Penna

Research output: Contribution to journalArticlepeer-review

Abstract

The 17ph+ variant is found in various individuals with different phenotypes. The origin and the meiotic behavior of this, as well as other structural chromosome variants, are still unknown. These variants are generally considered without pathological effect, but they are also described subjects subject with sterility, repeated abortions, malformations and mental retardation. The authors describe the 17ph+ variant in 9 subjects with various phenotypes. The particular structure of the short arm of one chromosome 17 was always present in mosaic and at a different percentage. This structure was similar to satellites by standard Giemsa staining, but the presence of any heterochromatin was excluded by the CBG banding technique. Silver staining technique showed no active ribosomal cistrons at band p12 of chromosome 17. The absence of association with acrocentric chromosomes, the lack of the characteristic fluorescence by Q banding and the absence of NORs exclude the presence of satellites. These variants could have their origin in defective mechanisms at meiosis that the authors are unable to point out with the available techniques. Due to scarce information on the incidence of some of these variants in the normal population, it is difficult to show that these abnormalities are more frequent in individuals with abnormal phenotypes. The absence of phenotypic effect of the 17ph+ could be demonstrated by familial studies, as in a case with azoospermia, his father showing the same structural abnormality.

Translated title of the contributionEvidence of 17 ph+ in nine individuals with various phenotypes
Original languageItalian
Pages (from-to)203-206
Number of pages4
JournalGaslini
Volume12
Issue number2
Publication statusPublished - 1980

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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