Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members (Articolo in rivista)

Type

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

Label

• Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

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

• 10.1002/ajmg.a.32590 (literal)

Alternative label

• AL. Nucaro; M. Meloni; T. Pisano; P. Melis; E. Rossi; R. Rossino, S. Corona; M. Loi; F. Achena; O. Zuffardi; C. Cianchetti. (2008)
  Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members
  in American journal of medical genetics. Part A (Online)
  (literal)

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

• AL. Nucaro; M. Meloni; T. Pisano; P. Melis; E. Rossi; R. Rossino, S. Corona; M. Loi; F. Achena; O. Zuffardi; C. Cianchetti. (literal)

Pagina inizio

• 3242 (literal)

Pagina fine

• 3245 (literal)

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

• 146A (literal)

Rivista

• American journal of medical genetics. Part A (Rivista)

Note

• ISI Web of Science (WOS) (literal)

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

• Nucaro A: Institute of Neurogenetic and Neuropharmacology of CNR, Monserrato, Cagliari, Italy Meloni M; Pisano T; Corona S, Loi M, Cianchetti C:Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria of Cagliari, Cagliari, Italy Rossino R: Department of Pediatric Sciences, Azienda Ospedaliero-Universitaria of Cagliari, Cagliari, Italy Zuffardi O:Medical Genetics, University of Pavia, Pavia, Italy Achena F: Division of Otorinolaringology, Presidio Ospedaliero CTO Iglesias, Cagliari, Italy Rossi E: IRCCS Fondazione Policlinico San Matteo, Pavia, Italy Received 18 April 2008; Accepted 25 August 2008 How to cite this article: Nucaro AL, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi (literal)

Titolo

• Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members (literal)

Abstract

• We report a large family with the simultaneous presence in seven members o fan unbalanced trans location t(3p;10p), resulting in partial trisomy 10p (p12.31?pter) involving 19.3 Mb, and of partial monosomy 3p (p26.3?pter), involving 2.6 Mb. This unbalanced chromosome constitution are likely to be the results of adjacent-1 segregation of the balanced translocation t(3;10)(p26;p12), or could come from alternate segregation having interstitial crossover, found in 13 members of the family. Subjects with the balanced translocation do not present any clinical abnormalities. The presence of many spontaneous abortions suggested that other unbalanced products of the translocation are not viable. (literal)

Prodotto di

• Studio con Array-CGH di soggetti con ritardo mentale idiopatico. (ME.P05.009.003) (Modulo)
• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)

Autore CNR

• ANNA LISA NUCARO (Persona)

Incoming links:

Prodotto

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• Studio con Array-CGH di soggetti con ritardo mentale idiopatico. (ME.P05.009.003) (Modulo)

Autore CNR di

• ANNA LISA NUCARO (Persona)

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

• American journal of medical genetics. Part A (Rivista)