Trisomy 21 mosaicism in two subjects from two generations. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Trisomy 21 mosaicism in two subjects from two generations. (Articolo in rivista) (literal)

Anno

• 1992-01-01T00:00:00+01:00 (literal)

Alternative label

• Casati A, Giorgi R, Lanza A, Raimondi E, Vagnarelli P, Mondello C, Ghetti P, Piazzi G, Nuzzo F. (1992)
  Trisomy 21 mosaicism in two subjects from two generations.
  in Annales de génétique
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Casati A, Giorgi R, Lanza A, Raimondi E, Vagnarelli P, Mondello C, Ghetti P, Piazzi G, Nuzzo F. (literal)

Pagina inizio

• 245 (literal)

Pagina fine

• 250 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 35 (literal)

Rivista

• Annales de génétique (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 4 (literal)

Note

• ISI Web of Science (WOS) (literal)
• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Casati A, Giorgi R, Lanza A,, Mondello C,Piazzi G, Nuzzo F., Istituto di genetica Molecolare, CNR, Pavia Raimondi E, Vagnarelli P: Dipartimento di Genetica e Microbiologia, Università di Pavia Ghetti P: Istituto di Clinica Dermatologica, università di Bologna (literal)

Titolo

• Trisomy 21 mosaicism in two subjects from two generations. (literal)

Abstract

• In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xeroderma pigmentosum, a low proportion of cells with a 47,XY,+21 karyotype was found in lymphocyte cultures of a patient not showing any Down syndrome symptom. The presence of trisomy 21 mosaicism was demonstrated also in peripheral blood of the healthy father and confirmed by \"chromosome painting\" that allowed a rapid detection of chromosomes 21 on metaphase cells and interphase nuclei. The trisomic cell line was not detected in fibroblast cultures. The analysis of chromosome 21 heteromorphism indicated that in both subjects the mosaic could result from either a diploid or an aneuploid zygote. Since in the trisomic cell line of the father and the son the extra chromosome 21 seems to be the same, a predisposition toward mitotic errors (non-disjunction or anaphase lagging) may be postulated, leading to the recurrent gain or loss of a specific chromosome 21. In order to test the hypothesis of an abnormal mitotic behaviour of the chromosome 21, we investigated the centromere separation index and the DNA restriction pattern in Southern blots probed with satellite DNA sequences specific for chromosome 21 centromere. Both the approaches did not reveal any peculiar feature that may account for the genetically determined proneness to mitotic error observed in the family. (literal)

Prodotto di

• Studio di pathway coinvolti nella progressione tumorale (ME.P05.005.002) (Modulo)
• Institute of molecular genetics (IGM) (Istituto)

Autore CNR

• CHIARA MONDELLO (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "Trisomy 21 mosaicism in two subjects from two generations." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Studio di pathway coinvolti nella progressione tumorale (ME.P05.005.002) (Modulo)

Autore CNR di

• CHIARA MONDELLO (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Annales de génétique (Rivista)

Insieme di parole chiave di

• Parole chiave di "Trisomy 21 mosaicism in two subjects from two generations." (Insieme di parole chiave)