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Velocity and structural model of the Lower Tagus Basin according to the study o...

Prenatal diagnosis of mosaic tetrasomy 18p

To report the case of a prenatally detected de novo mosaic tetrasomy 18p where a combination of different methodologies was used,including conventional cytogenetics and molecular genetics techniques. METHOD: Molecular rapid aneuploidy diagnosis, by quantitative fluorescent polymerase chain reaction (QF-PCR), conventional cytogenetics and fluorescence in situ hybridization (FISH). RESULTS:Amniocentesis was perfo...

Perda do cromossoma Y versus doenças hematológicas malignas

A associação clínica entre a perda do cromossoma Y (PY) e as doenças hematológicas malignas é um tema controverso, uma vez que ambos os acontecimentos estão correlacionados com o envelhecimento. Tendo como objetivo, tentar obter uma correlação entre a perda do cromossoma Y e as diferentes doenças hematológicas malignas, procedeu-se a um estudo retrospetivo de 15 anos, dos resultados citogenéticos de 1241 indiví...

9q34.3 microdeletion by MLPA in a fetus with cardiac defects

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

Validation of the Lower Tagus Valley velocity and structural model using ambien...

Gestações gemelares: anomalias cromossómicas em diagnóstico pré-natal (2001-2012)

Introdução: As gestações gemelares (GG) têm aumentado significativamente nos últimos anos, sendo este aumento atribuído a um efeito combinado de tratamentos de fertilidade e aumento da idade materna. As grávidas com GG têm um risco acrescido de anomalias cromossómicas fetais, comparativamente às de gestações simples. Objetivo: Avaliação dos resultados obtidos em estudos de Diagnóstico Pré-Natal (DPN) de Anomal...

Prenatal Investigation of a Familial Partial Monosomy 10q

Objective: To present the clinical, cytogenetic and molecular findings of a prenatal study of a familial partial monosomy 10q. Distal 10q deletions are rare and the majority are terminal deletions involving bands 10q25 and 10q26. Patients typically present with facial dysmorphism, postnatal growth retardation, developmental and mental retardation, genitourinary anomalies and digital anomalies. Methods: Conventi...

Prenatal diagnosis of terminal 11q deletion

The majority of 11q deletion cases described may be included in the “distal 11q deletion syndrome”, or Jacobsen syndrome. This is a rare but clinically recognizable condition with an incidence of 1/ 100,000 births. The most common clinical features are psychomotor delay, characteristic facial dysmorphism and malformations of the heart, kidney, genitalia, central nervous system and skeleton. Patients usually hav...

Cytogenetic analyses in a group of patients with myelodysplastic syndromes

Myelodysplastic syndromes (MDS) constitute a heterogeneous group of clonal disorders of haematopoietic stem cell diseases characterised by dysplasia and ineffective haematopoiesis in one or more of the major myeloid cell lines. This disease occurs predominantly in older adults where the median age at diagnosis is approximately 70 years. The aim of this study was to evaluate the data from cytogenetic analyses in...

Loss of the Y chromosome in male patients with haematological disorders

The clinical association between loss of the Y (L0Y) chromosome and haematological disorders has been continuously debated because both phenomena can be age-related. In order to understand the relationship between the L0Y chromosome and the different haematological diseases, we retrospectively analysed cytogenetic results of 1,241 male patients from 1995 to 2010. Seventyeight patients (6.3%) showed L0Y. Of the ...