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Biomedical subjects

G Neri

Publications and source records attributed to G Neri.

At least 289 records · Page 16Linked to original sources
PubMed1986

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio-Facio-Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis-like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.

Abnormalities, Multiple↗
PubMed1985

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.

A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.

Adult↗
PubMed1985

Hyperthermia after discontinuance of levodopa and bromocriptine therapy: impaired dopamine receptors a possible cause.

Hyperthermia, with no signs of any underlying infection, may occur in the course of neuroleptic malignant syndrome, fatal catatonia, heat stroke, or malignant hyperthermia. We describe hyperthermia as a complication after discontinuance of antiparkinsonian treatment with levodopa/carbidopa and bromocriptine. Impaired nigrostriatal, hypothalamic, and mesolimbic dopaminergic functions could be involved in pathogenesis.

Body Temperature Regulation↗
PubMed1984

A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X individuals.

A review of the reproductive performance of 47,XXX individuals showed that the incidence of gonosomal aneuploidy among the offspring is low. To explain this unexpected phenomenon it is hypothesized that fertile triplo-X individuals have chromosomally normal oogonia due to mitotic nondisjunction in a cell from which the primordial germ line took origin. Mosaic 46,XX/47,XXX individuals have a somewhat higher risk of bearing aneuploid offspring, possibly due to a constitutional tendency toward gonosomal nondisjunction.

Aneuploidy↗
PubMed1984

Some questions on the significance of chromosome alterations in leukemias and lymphomas: a review.

Recent improvement in the methods of chromosome analysis has allowed recognition of consistent chromosome alterations in several human cancers, especially leukemias and lymphomas. At the same time, newly discovered human cellular oncogenes have been mapped to individual chromosomes, with precise band assignment. Some of the assignments are coincident with the breakpoints of translocations observed in particular tumors. In fact, a relocation of the corresponding oncogenes has been observed in the cells of some of these tumors. Two notable examples are that of the t(9;22) translocation of chronic myelogenous leukemia (CML), causing the transfer of the oncogene c-abl from chromosome 9 to chromosome 22, and that of the t(8;14) translocation of Burkitt lymphoma, causing the transfer of the oncogene c-myc from chromosome 8 to chromosome 14. These findings can be taken as indicative of a critical role of chromosome alterations in the origin of cancer, through the activation of one or more cellular oncogenes, although there is no firm evidence that such an activation actually occurs. In addition, some concern exists over the validity of accepting in vitro transformation of a cell line by oncogenes as a model of carcinogenesis in man. For these reasons the question on the significance of chromosome alterations in leukemias and lymphomas should not be considered entirely settled yet. Useful models, whose study may lead to the clarification of this important point, are represented by premalignant conditions, such as the myeloproliferative disorders, where chromosome abnormalities are present before the development of a bona fide neoplasm, and by the aneuploidy syndromes, in which there exists an association between a constitutional chromosome anomaly and an increased risk of cancer.

Burkitt Lymphoma↗
PubMed1984

Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome.

We report on a patient with a de novo interstitial deletion of the proximal portion of the short arm of chromosome 3 (p12----14.2). The deleted portion excludes the constitutive fragile site assigned to band 3p14. The phenotype of the patient, together with that of three previously reported cases, seems to be sufficiently characteristic to allow the delineation of a proximal 3p deletion syndrome.

Abnormalities, Multiple↗
PubMed1984

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

Abnormalities, Multiple↗
PubMed1984

Sensorineural deafness in the FG syndrome: report on four new cases.

We report on four new cases of FG syndrome with typical manifestations of this X-linked inherited condition and note a hitherto undescribed sign, sensorineural deafness. The association between sensorineural deafness and imperforate anus is likely to represent more than a chance occurrence, given its presence also in the Townes-Brocks syndrome.

Abnormalities, Multiple↗
PubMed1984

[Anomalous chordae tendineae of the left ventricle. Echocardiographic study].

Left ventricular false tendons (or anomalous bands) have been described in several anatomic studies. Recently the echocardiographic features of such false tendons have been reported also. We have found a prevalence of 36 cases in 1,600 consecutive patients examined (2.2%). False tendons represent a rather common and benign phenomenon. Echocardiography is the most useful tool in the detection of false tendons.

Adolescent↗
PubMed1983

A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.

We describe a boy with a ring chromosome 15, showing the manifestations characteristic of this condition, ie, growth deficiency and unusual facial appearance with minor anomalies. The ring was derived from a t(15q;15q) chromosome of the mother, who had also had four spontaneous abortions. The respective karyotypes were 45,XX, -15,-15,+t(15q;15q) (mother) and 46,XY,-15,+r(15q;15q)mat (15q13 leads to cen leads to 15q26)(son). The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen leads to q13. Data from enzyme assays suggest that this duplicated region carries the alpha-mannosidase gene.

Adult↗