A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis. (Articolo in rivista)

Type

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

Label

• A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis. (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Alternative label

• A. Nucaro; G. Crisponi; L. Minafra; R. Rossino; C. Cianchetti. (2008)
  A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis.
  in Genetic counseling
  (literal)

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

• A. Nucaro; G. Crisponi; L. Minafra; R. Rossino; C. Cianchetti. (literal)

Pagina inizio

• 37 (literal)

Pagina fine

• 42 (literal)

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

• 19 (literal)

Rivista

• Genetic counseling (Rivista)

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

• 1 (literal)

Note

• ISI Web of Science (WOS) (literal)

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

• A. Nucaro: Neurogenetics and Neuropharmacology Institute- CNR, Cagliari, Italy. G. Crisponi: Casa di cura S. Anna- Cagliari. L. Minafra; C. Cianchetti; D. Pruna: Dipartimento di Neuroscienze, Neuropsichiatria Infantile, Cagliari University.. R. Rossino: Dipartimento di Scienze Pediatriche e Medicina Clinica, Cagliari University. (literal)

Titolo

• A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis. (literal)

Abstract

• We report a Sardinian family in which three members showed a mental-retardation-microcephaly-multiple malformations syndrome resulting from an unbalanced translocation (7;13)(q36;q32) which led to subtelomeric trisomy 7q36qter and partial monosomy 13q32qter. The unbalanced translocation was transmitted by alternate segregation from a female and a male carriers of the balanced translocation. The three patients had severe mental retardation, microcephaly and multiple minor facial and fingers anomalies. Neuroimages showed brain atrophy, associated in two patients with partial agenesis of the corpus callosum. FISH with chromosome 13 and 7 specific painting probes and subtelomere specific probes was instrumental for defining and characterizing the chromosomal translocation. Extensive genetic counseling and prenatal diagnosis has been offered to all the members of the family. (literal)

Prodotto di

• 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

• 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

• Genetic counseling (Rivista)