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Biomedical subjects

G Neri

Publications and source records attributed to G Neri.

At least 271 records · Page 15Linked to original sources
PubMed1988

Long-term cytogenetic effects of antineoplastic treatment in relation to secondary leukemia.

Chromosome translocations are consistently present in leukemias and lymphomas and are likely to represent primary events in the development of these neoplasias. A study of conditions that predispose to leukemia could shed some light on the origin of these translocations and therefore help in clarifying their exact role in the process of neoplastic transformation. Based on this assumption, we studied a group of individuals treated with radiochemotherapy for previous lymphoma and who were at increased risk of developing a secondary leukemia. The group comprised 14 Hodgkin's disease patients, 11 non-Hodgkin's lymphoma patients, and 13 controls. The patients were in remission and had been off therapy for at least 6 months. Chromosomes were studied from phytohemagglutinin (PHA)-stimulated peripheral lymphocytes and from bone marrow cells by the direct method and after short-term cultures (72 hours). The latter were also exposed to 5-bromodeoxyuridine (BrdU). Metaphases were scored for chromosome breaks, gaps, and other rearrangements. The percentage of gaps and breaks was significantly higher in patients than in controls. The difference was induced by BrdU and was apparent in bone marrow cells, but not in peripheral lymphocytes. We conclude that individuals exposed to the action of mutagenic agents (radiochemotherapy) have an increased chromosome instability that could be related to their increased risk of developing a secondary leukemia.

Adolescent↗
PubMed1988

Multiple "marker" chromosomes: a novel cytogenetic finding in a patient with mental retardation and congenital anomalies.

A patient with mental retardation and clinical manifestations suggestive of Noonan syndrome was found to have in her peripheral lymphocytes multiple small accessory marker chromosomes, varying in number from one to five per cell and in size from about half the size of the q arm of a G group chromosome to less than a centromere. Occasionally, in the more elongated markers, a G-positive or a C-positive band could be identified, or the marker had the appearance of a ring. The origin and significance of these marker chromosomes are discussed.

Abnormalities, Multiple↗
PubMed1988

Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical cases.

We report on two unrelated patients with fetal alcohol syndrome with hypoplasia of the periocular region, resulting in a low and narrow forehead and hypotelorism. Other typical manifestations of the syndrome involving the facial midline are also present. These observations can be added to clinical and experimental evidence from other authors, supporting the concept that the facial anomalies of the fetal alcohol syndrome are the expression of a midline defect originating from the disruption of the ordered development of midline mesoderm cells during early embryogenesis.

Child↗
PubMed1988

IVIC syndrome: report of a second family.

The IVIC syndrome derives its name from the Instituto Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am J Med Genet 6:25-59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation shows that the IVIC syndrome is not a private syndrome, and confirms that it is due to an autosomal dominant mutation.

Abnormalities, Multiple↗
PubMed1988

A retrospective study of Creutzfeldt-Jakob disease in Italy (1972-1986).

In a retrospective study of Creutzfeldt-Jakob disease (CJD) in Italy from 1972 to 1986, we found 79 cases which fulfilled the diagnostic criteria for CJD. The annual mortality rate was 0.09 cases per million inhabitants. In this series the female to male ratio was 2.59, a value significantly higher than that found in Italian population (1.05). The mean age at death was 62.1 +/- 9.4 years and the mean duration of the disease was 5.3 +/- 3.0 months. No familial cases of CJD were found in our series. Mental deterioration was present in all of our cases, myoclonus in 85% and the other clinical signs were present at a lower rate. Periodic EEG activity was found in 92% of the cases. Two patients had had neurological or ophthalmic surgery and 17% of our cases had undergone general surgery within 5 years prior to the clinical onset of CJD.

Adult↗
PubMed1988

Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.

We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.

Arthrogryposis↗
PubMed1988

Partial duplication of chromosome 1q preceding the development of an L3 lymphoblastic leukemia with t(8;14), secondary to treatment for Hodgkin's disease.

We report on a case of secondary lymphoblastic leukemia L3 in a patient treated with chemo- radiotherapy for a previous Hodgkin's disease. The typical chromosome translocation t(8;14) was found in association with a translocation t(9;19) and a marker chromosome 1, dup(1q). The same marker chromosome had been detected in a few cells of peripheral blood 2 years before the onset of the acute leukemia and may represent a proliferation-associated change, responsible for the initiation of the process of leukemogenesis.

Adult↗
PubMed1988

[Cardiac rhabdomyoma in a newborn infant with tuberous sclerosis. Value of 2-dimensional and Doppler echocardiography].

Cardiac rhabdomyomas are the most frequent primary cardiac tumors in infancy and childhood and in about 50% of cases are associated with tuberous sclerosis. They are often responsible for a high mortality rate because of their critical location and extent of involvement. This report describes a patient with tuberous sclerosis and multiple cardiac rhabdomyomas, both intramyocardial and intracavitary--diagnosed by two dimensional and Doppler echocardiography at birth. The infant was followed till nine months of age. To date, the tumors have not increased their size and don't provoke moderate or severe obstruction of blood flow. The child is, at present, free from cardiac signs and symptoms, and does not take digitalis or diuretics. We have not detected any arrhythmias. Two-dimensional and Doppler echocardiography are very useful non-invasive techniques in the diagnosis and longitudinal follow-up of patients with cardiac rhabdomyomas.

Echocardiography, Doppler↗
PubMed1987

The CFC syndrome--report of the first two cases outside the United States.

We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.

Abnormalities, Multiple↗
PubMed1987

A girl with G syndrome and agenesis of the corpus callosum.

We report on a female patient with G syndrome. The clinical expression is relatively severe and includes 2 manifestations not previously reported, ie, agenesis of the corpus callosum and umbilical hernia. These new findings support the notion that there is a developmental defect of the midline as the basis of the G syndrome.

Abnormalities, Multiple↗
PubMed1987

The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

The BBB and G syndromes are multiple congenital anomaly (MCA) syndromes characterized by a developmental defect of the midline field. Prominent clinical manifestations are hypertelorism and, in males, hypospadias. Transmission is most likely autosomal dominant in both syndromes. Examination of two new cases and scrutiny of the literature led us to conclude that there are no discriminating qualitative differences between the two conditions. Therefore we propose that they both be designated by the common term "Opitz syndrome."

Adolescent↗
PubMed1987

Protective effect of S-adenosylmethionine against the induction of chromosome fragile sites.

Chromosome fragile sites were induced in the peripheral lymphocytes of 7 donors by treatment of the cells in culture with 5-fluorodeoxyuridine and caffeine. The appearance of these fragile sites was inhibited to a large extent and in a dose-dependent manner by S-adenosylmethionine. It is possible that this methyl donor exerted its protective action through restoration of the correct level of methylation of the DNA.

Caffeine↗
PubMed1987

Myotonic dystrophy and chromosome translocation segregating in the same family.

We report on a family segregating the myotonic dystrophy (DM) gene and a t(5;8) reciprocal translocation. The DM presented the characteristics typically seen in this disease, i.e. full penetrance, broad expressivity, apparent anticipation in successive generations, presence of a congenital form transmitted by a carrier mother. The family was uninformative for linkage studies with the Lutheran and Secretor loci. The concordance between DM and chromosome translocation in 8 out of 9 individuals at risk was apparently due to chance.

Adult↗
PubMed1987

A 45,X male with Y-specific DNA translocated onto chromosome 15.

A 20-year-old male patient with chromosomal constitution 45,X, testes and normal external genitalia was examined. Neither mosaicism nor a structurally aberrant Y chromosome was observed when routine cytogenetic analysis was performed on both lymphocytes and skin fibroblasts. Y chromosome-specific single-copy and repeated DNA sequences were detected in the patient's genome by means of 11 different recombinant-DNA probes of known regional assignment on the human Y chromosome. Data indicated that the short arm, the centromere, and part of the long-arm euchromatin of the Y chromosome have been retained and that the patient lacks deletion intervals 6 and 7 of Yq. High-resolution analysis of prometaphase chromosomes revealed additional euchromatic material on the short arm of one of the patient's chromosomes 15. After in situ hybridization with the Y chromosome-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 chromosomal translocation. We conclude that some 45,X males originate from Y-chromosome/autosome translocations following a break in the proximal long arm of the Y chromosome.

Adult↗
PubMed1986

Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations.

We have studied a sample of 5,445 couples in which the woman was ascertained to have had two or more spontaneous abortions: 396 from our Cytogenetics Unit (present series) and 5,049 from the literature (literature series). In approximately 5% of these couples one of the members was a carrier of a balanced translocation, either reciprocal (2/3 of cases) or Robertsonian (1/3). In 1% of the couples there were other chromosome anomalies, mostly gonosomal aneuploidies or mosaicisms. A pericentric inversion of the heterochromatic region of chromosome 9 was present in 3% of the couples of the present series and in 1% of the literature series. The number of female carriers exceeded significantly that of males. The probability for one member of the couple to be a carrier increased with the number of abortions at the time of ascertainment, but it does not seem modified by the concomitant presence of term pregnancies. The analysis of the cytogenetic findings in 80 cases of Robertsonian and 156 cases of reciprocal translocations suggests that some chromosomes are preferentially involved, and that in reciprocal translocations the breakpoints are not distributed at random on the chromosome arms. There is an excess of breakpoints on chromosomes 6, 7, and 22 and a dearth on chromosome 12. This distribution is significantly different from that of a sample of reciprocal translocations ascertained for a malformed child. In both samples the breakpoints seem associated with fragile sites more frequently than expected by chance. An analysis of the potential and effective chromosome imbalance suggests that in subjects with unbalanced chromosomes survival is correlated with a minimum imbalance.

Abortion, Habitual↗