Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3) (Articolo in rivista)

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Label
  • Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3) (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/BF03195627 (literal)
Alternative label
  • Al. Nucaro; P. Melis; MR. Casini; R. Rossino; M. Cau; Ma. Melis; S. Loche. (2008)
    Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)
    in Journal of Applied Genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Al. Nucaro; P. Melis; MR. Casini; R. Rossino; M. Cau; Ma. Melis; S. Loche. (literal)
Pagina inizio
  • 301 (literal)
Pagina fine
  • 303 (literal)
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  • 49 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 3 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Nucaro A: Istituto di Neurogenetica e Neurofarmacologia -CNR, Cagliari, Italy. Melis P; Rossino R: Dipartimento di Scienze Pediatriche e Medicina Clinica, Universit√† di Cagliari. Casini MR; Loche S: Servizio di Endocrinologia Pediatrica, Ospedale Regionale per le Microcitemie, Cagliari. Cau M; Melis MA: Dipartimento di Scienze Biomediche e Biotecnologie, Universit√† di Cagliari (literal)
Titolo
  • Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3) (literal)
Abstract
  • X/X translocations are quite rare in humans. The effect of this anomaly on the phenotype is variable and depends on the amount of deleted material and whether the chromosomes are joined by their long or short arms. We report an unusual case of Turner syndrome mosaicism in a 16-year-old girl, who was referred to our Institute for primary amenorrhoea associated with short stature. Endocrine evaluation revealed hypergonadotropic hypogonadism, which required a study of the karyotype. Cytogenetic analysis, performed on peripheral blood leucocytes, showed a mos 45,X/46,X,ter rea (X;X)(p22.3;p22.3) de novo karyotype. The prevalent cell line was 45,X (90% cells). A second cell line (10% cells) showed a very large marker chromosome, similar to a large metacentric chromosome. FISH (fluorescent in situ hybridisation) and molecular analysis revealed that the marker chromosome was dicentric and totally derived from the paternal X chromosome. (literal)
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