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Biomedical subjects

G Ferranti

Publications and source records attributed to G Ferranti.

At least 37 records · Page 2Linked to original sources
PubMed1989

First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes.

A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.

Chromosomes↗
PubMed1985

Frequency of consanguineous marriages among parents and grandparents of Down patients.

The existence of a rare autosomal gene which in the homozygous state would cause mitotic nondisjunction in the Down zygote has been hypothesized in the past by Alfi et al. (1980). This hypothesis can be supported or contradicted by the study of the frequency of consanguineous marriages among parents of affected children. Our study on 242 children affected with Down syndrome does not show any increase in the frequency of consanguineous marriages among their parents with respect to the general population, and therefore does not support the hypothesis of an autosomal gene controlling mitotic nondisjunction. Our data do not show any increase in the frequency of consanguineous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.

Adolescent↗
PubMed1985

Discordant sex in one of three monozygotic triplets.

A case is reported of monozygotic triplets, discordant for phenotypic sex, in which the female presented at birth with the features of Turner's syndrome. Chromosomal analyses showed homogeneous 46,XY karyotypes in the lymphocytes of the three sibs, while a 45,X non-mosaic chromosome constitution was detected in skin fibroblasts of the female triplet. It is suggested that mitotic non-disjunction or anaphase lag occurring early during embryonic development accounted for the occurrence of monosomy X in one cell line of the affected triplet. Previous observations of monozygotic twin pairs discordant for chromosome constitutions are reviewed.

Blood Grouping and Crossmatching↗
PubMed1985

Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling.

Two pregnancies at risk for Fanconi's anemia have been monitored by a cytogenetic method in the first trimester of gestation. The rate of chromosome breakage was evaluated in spontaneous mitoses from a direct preparation of trophoblasts in one case and from mitoses obtained from standard cultures and from mitoses treated with diepoxybutane in both cases. Cytogenetic studies were carried out also at 16 weeks from amniotic fluid cells in one case, and in fibroblasts sampled from the aborted fetus in the other. In all the experimental conditions the mean frequency of breaks/cell was in the range of controls, suggesting that the fetuses were unaffected by Fanconi's anemia. In one case the results have been confirmed by chromosome analysis at birth.

Adult↗
PubMed1984

A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism were, in our patient, abnormalities of the neutrophil nuclei, which consisted of multiple pedunculated or sessile projections, similar to those characteristically associated with trisomy 13 syndrome.

Abnormalities, Multiple↗
PubMed1983

Prenatal prediction of duplication 10q24 leads to qter by gene dosage of GOT1 on uncultured amniotic cells.

Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red blood cells of a 10q24 leads to qter trisomic fetus monitored by midtrimester amniocentesis. In the present pregnancy, the GOT1 activity of amniotic cells exhibited a triplex gene dosage, suggesting duplication of region 10q24 leads to qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis.

Adult↗
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↗
PubMed1981

The possibility of prenatal diagnosis by gene dosage: confirmation of duplication 10q24 to qter from GOT-1 activity in fetal erythrocytes.

The activity of four enzymes, including GOT-1, has been investigated in he erythrocytes of a 10q to 24 qter trisomic fetus. Analyses have been performed on a feto-maternal blood mixture sampled by fetoscopy and on red cells obtained by cardiac puncture, following therapeutic abortion. The demonstration of a 40 per cent increase of GOT-1 activity, as compared to normal fetuses of similar gestational age, suggests that gene dosage studies may be a useful confirmatory technique in prenatal diagnosis of unbalanced chromosomal aberrations. Practical application of a similar diagnostic approach is conditioned by (1) precise characterization of fetal chromosome imbalance; (2) confirmed assignment of the gene locus coding for the gene product under investigation; (3) evidence of a linear proportionality between gene dose and concentration of the gene product in patients with the same chromosome imbalance detected in the fetus; (4) knowledge of the range of normal variation at different weeks of gestation of the enzyme activity to be tested in the fetus; (5) safety of fetal sampling procedure.

Adult↗
PubMedDate not supplied

Expression of AP-2 transcription factor and of its downstream target genes c-kit, E-cadherin and p21 in human cutaneous melanoma.

The AP-2 transcription factor plays a pivotal role in regulating the expression of several genes involved in tumor growth and progression of melanoma. We determined, by Western blot, variation in the level of expression of AP-2 and three of its downstream targets, c-kit, E-cadherin, and p21 in several human melanoma cell lines and, by immunohistochemistry, in a group of 99 histological samples including benign and malignant melanocytic lesions. A significant negative correlation between AP-2 expression level and tumor thickness was found. Moreover, AP-2 expression was positively associated with E-cadherin and c-kit expression. In contrast, there was a significant negative association between AP-2 and p21 expression levels. These findings suggest that p21 is independent of AP-2 transactivator function during the latest phases of melanoma progression. Finally, AP-2, c-kit, E-cadherin, and p21 expression levels did not show to be able to distinguish between dysplastic nevi and nevi without dysplasia. We conclude that changes in the expression of these proteins are involved in the later phases of melanoma progression, and may be responsible for the transition from local invasive melanoma to metastasis.

Blotting, Western↗
PubMedDate not supplied

First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency.

First trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability. Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn. Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.

Adult↗
PubMedDate not supplied

Eruptive pseudoangiomatosis.

Eruptive pseudoangiomatosis is a rare, benign, spontaneously regressive disease. The term was recently coined to describe a dermatosis characterized by the sudden onset of a few to several bright red angioma-like papules with histopathologic findings distinct from that of true angiomas. We describe a 7-year-old patient with the typical lesions of eruptive pseudoangiomatosis.

Angiomatosis↗
PubMedDate not supplied

Pruritic eosinophilic papular eruption revealing HIV infection.

Eosinophilic folliculitis (EF) is a rare follicular pruritic papular eruption observed in association with human immunodeficiency virus (HIV). The diagnosis of eosinophilic folliculitis is based on the histologic findings consisting of a sterile inflammatory infiltrate rich in eosinophils involving hair follicles. EF in HIV patients is believed to be an immunoinflammatory response directed either at follicular or skin flora antigens in the late-stage of HIV infection. In this stage, immune response is characterized by a shift from a Th1- to a Th2-dominant cytokine profile and an increased secretion of interleukin-4 and interleukin-5, both known to promote eosinophilia. We describe a case of HIV-associated eosinophilic folliculitis in a 30-year-old black woman referred to us for a pruritic follicular eruption without any other clinical symptom related to the acquired immunodeficiency syndrome. HIV infection presenting with EF has been rarely reported and its occurrence in women is also very rare.

Adult↗