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Biomedical subjects

G Gimelli

Publications and source records attributed to G Gimelli.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1986

The fetal pathology of the XXXXY-syndrome.

A second case of fetal XXXXY-syndrome detected by prenatal chromosome analysis is presented. The pathological findings include a facial aspect featuring fetal Down's syndrome, hypogenitalism and hypogonadism with excessive reduction of germ cells and also skeletal abnormalities that may be interpreted as early changes, preceding phalangeal shortening V and radioulnar synostosis.

Adult↗
PubMed1985

Dup(3)(p2----pter) in two families, including one infant with cyclopia.

We report on 2 unrelated cases of duplication of distal 3p due to balanced maternal translocation t(3;6)(p23;q27) and t(2;3)(p25;p23) respectively. One family was ascertained through the unbalanced offspring and the other through echographic examination of the balanced carrier mother. These cases confirm that dup(3)(p2----pter) results in a characteristic syndrome with distinctive facial appearance. In family 2 inspection of a photograph of a deceased sib was sufficient to conclude that he was affected. The patient in family 2 had cyclopia. Since holoprosencephaly was also reported by Martin and Steinberg [1983], we conclude that this anomaly appears to be a sign of the syndrome. The duplication usually derives from a maternal balanced translocation, in most cases from adjacent-1 segregation. However, family 2 was ascertained through a balanced female carrier who inherited the translocation from the father. We have noted that the second chromosome (which varies without apparent preferences) involved in these translocations is broken consistently at a distal band.

Abnormalities, Multiple↗
PubMed1983

Prenatal diagnosis, fetal pathology and cytogenetic analysis of a 46,XX/47,XX, + 15 mosaic.

Mosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and--with one exception--in the fetal tissues, while serial subcultures gave different results. The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern.

Abortion, Therapeutic↗
PubMed1983

G-bands without pretreatment of slides, in chemically defined conditions.

We investigated the capability of Giemsa dyes to produce G-bands without pretreatment of slides in chemically defined conditions. G-banding was produced between pH 7.0 and pH 11.0. Within this range, we observed that the achievement of G-bands was dependent on the ionic strength and time of staining. From these data and from those of other authors on other chemical variables and on the mechanisms of staining, we propose a working hypothesis of G-band formation, with a step involving shrinkage of the chromatids and rearrangement of the chromosome fiber during the staining process.

Azure Stains↗
PubMed1982

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.

The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The main indication groups were: advanced maternal age (2882 cases), previous child with chromosome anomaly from parents with normal karyotype (847 cases), and chromosome anomaly in one parent (97 cases). The other indications for amniocentesis, including cases without a cytogenetic risk, have been assembled into a "miscellaneous" group (1126 cases). We found 125 abnormal fetal karyotypes (2.5%) of which 89 were unbalanced (1.8%). The frequencies and types of chromosome anomalies are reported in detail for each indication group and are compared with the corresponding one from the European Munich Conference. The great majority of these Italian data were not included in the Munich report.

Chromosome Aberrations↗
PubMed1982

Duplication of the short arm of chromosome 9. Analysis of five cases.

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function. The phenotypic differences between trisomy and tetrasomy 9p are discussed.

Abnormalities, Multiple↗
PubMed1981

Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.

A 2-year-old girl had a de novo duplication in the long arm of one chromosome 7 and an increased level of the enzyme beta-glucuronidase in cultured fibroblasts. The phenotype of the girl partly overlaps those of two presumptive syndromes due to secondary partial trisomies 7q. The ratio of the enzyme activity was 1.43 to the controls, and 1.37 to her parent's values. We could not define the abnormality but suggest two alternatives: either the patient is trisomic for region q112 to q22 or for the region q22 to q34. If the second alternative is correct the locus for beta-glucuronidase is possibly assigned to band 7q22.

Chromosome Banding↗
PubMed1981

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15q12 leads to 15pter or 15pter leads to 15q11::15q13 leads to 15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families. A non-sister chromatid exchange between the two homologous chromosomes 15 is considered a likely origin of the inv dup(15) in the cases with maternal derivation; in the only case of paternal derivation, however, the abnormal chromosome originated from one single chromosome 15. The clinical findings confirm that patients with inv dup(15) have mental and developmental retardation and are frequently affected by seizures, while severe physical malformations are absent.

Abnormalities, Multiple↗
PubMed1979

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Instability of the centromeric region of chromosome 1 and multibranched configurations formed by different numbers and combinations of arms of chromosomes 1, 9, and 16 were found in cultured lymphocytes of a 12-year-old male with combined IgA and IgE deficiency. No chromosome abnormalities were found in fibroblast cultures from the patient or in blood cultures from his parents. A possible effect on the frequency of the abnormalities of the almost continuous antibiotic treatment received by the patient was found both in vivo and in vitro, but no abnormalities were found in blood cultures from control subjects who received similar treatment. Interphase association of chromosomes 1, 9, and 16 and a high frequency of interchanges among the centromeric regions of these chromosomes due to the presence of a fragile site is assumed to be the cause of the abnormalities.

Child↗
PubMed1976

"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis.

Prominent intensely fluorescent satellites on one chromosome 22 seem to have been transferred, during gametogenesis of a male carrier of a balanced 10/22 translocation, from the normal 22 to the translocated 22 in his daughter and son, both carriers of the translocation. Prenatal diagnosis was performed in the carrier daughter and in the chromosomally normal female foetus the satellites have jumped back to one normal chromosome 22. The phenomenon is probably due to exchanges between the short arms of chromosome 22 at meiotic pairing in the father and in his daughter. These observations give a warning for caution in the use of marker variants for paternity tests and prenatal diagnosis.

Amniocentesis↗
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↗