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Biomedical subjects

A Pezzolo

Publications and source records attributed to A Pezzolo.

23 records · Page 2Linked to original sources
PubMed1990

Prenatal diagnosis of a partial 8p trisomy.

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;p11). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.

Amniocentesis↗
PubMed1986

First trimester fetal karyotyping: one thousand diagnoses.

Cytogenetic investigations for diagnostic purposes were performed on 1000 first trimester samples of chorionic villi (CVS) in two laboratories using similar techniques. Fetal karyotyping was the primary indication for CVS in 912 and maternal age was the major indication in 758 of them. The risk category "previous child/fetus with chromosome abnormality" included 74 diagnoses, while the category "chromosome abnormality in one of the parents" included 38 diagnoses. Sex determination was the primary indication for CVS in 53 pregnancies. The overall incidence of chromosomal abnormalities was 70, of which 47 were balanced and 23 unbalanced. The results are detailed for each of the risk categories and the incidence of abnormal karyotypes is given for each year of maternal age. In the maternal age of 35-37 years the incidence of unbalanced karyotypes was 2.9% and in the years 38 onwards it was 6.6%. The incidence of unbalanced karyotypes was about 4% when the sampling was made in the weeks 9 to 12 but six abnormal karyotypes were found among 39 CVS performed at the eight week of gestation. The 11 trisomies of the type not found at birth were clustered between the 8th and the 10th week of pregnancy. The technical problems encountered in this experience and the preliminary estimates of fetal loss are discussed.

Abortion, Spontaneous↗
PubMedDate not supplied

Mapping of the human COL5A1 gene to chromosome 9q34.3.

A 353-bp region encoding for the NH2 terminus of the noncollagenic part of the alpha 1(V) chain was amplified by the polymerase chain reaction (PCR), subcloned and sequenced. The subcloned PCR product (pGC1) presented the same nucleotide sequence as the original fragment from the published sequence of COL5A1. In situ hybridization, using pGC1 as a probe, mapped the COL5A1 gene to chromosome 9q34.3. This assignment shows that COL5A1 is not synthetic with COL5A2, which is localized together with other collagen genes on chromosome 2.

Base Sequence↗
PubMedDate not supplied

Genotypic, phenotypic and biological characterization of a novel human lung adenocarcinoma cell line (LC 89)

A cell line termed LC 89 was established from a peritracheal lymph node metastasis removed from a 54-year-old patient who underwent surgery for pulmonary adenocarcinoma. Chromosomal analyses demonstrated structural and numerical aberrations, with a mode of 54 chromosomes per cell and several nonrandom abnormalities. The localization of intermediate filament antigens, low-molecular-weight (LMW) cytokeratins and vimentin, demonstrated a switch from LMW cytokeratins, predominantly expressed in primary tumor cells, to vimentin detected in LC 89 cells that were grown in vitro or transplanted into nude mice. In view of the phenotypic and chromosomal features, LC 89 should provide a useful addition to the cell lines currently available for in vitro and in vivo studies of lung cancer.

Adenocarcinoma↗