Clínic Barcelona. Hospital Universitari

ESTER MARGARIT TORRENT

Back

Consultor 1

Hospital Clínic – Biomedical Diagnostic CenterBiochemistry and Molecular Genetics

  • Cytogenetic diagnosis in patients with intellectual disabilities, abnormal phenotype or developmental delay and characterisation of chromosomal abnormalities using additional studies
  • Cytogenetic study in patients with infertility, sterility or repeated abortions in order to identify possible sexual chromosomal aneuploidies or balanced translocations
  • Detection of criptic microdeletions using fluorescence in situ hybridisation (FISH) for diagnosis of microdeletional syndromes in patients with clinical suspicion
  • Study of the testicular determinant gen SRY in patients with disorders of sexual differentiation and development using fluorescence in situ hybridisation(FISH)and molecular techniques.
  • Characterisation of chromosomal imbalances using fluorescence in situ hybridisation (FISH)and molecular approaches (PCR, MLPA, CGH-array) in patients with abnormal phenotype.
  • Phenotype-genotype correlations in patients with genomic imbalance. Identification of genes involved in phenotypic alterations.
  • Genetic alterations in patients with disorders of sexual differentiation and development.
  • Characterisation of fetal genetic alterations in prenatal diagnosis and phenotype correlation.
  • Human Genetics
  • Cytogenetics

Other charges

  • Member of Fondo de Ayuda Humanitaria y al Desarrollo (FAHiD) del Comité de Delegats Mèdics

  • Researcher at IDIBAPS (Institut d’Investigacions Biomèdiques Pi i Sunyer)

  • Member of a CIBER group for Rare Diseases research (CIBERER)

Recent articles

Academic Qualifications

  • Doctora en Ciències Biològiques, Universitat Autònoma de Barcelona (1998)
  • Llicenciada en Ciències Biològiques, Universitat Autònoma de Barcelona (1984)

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org