Biomedical subjects
Publications and source records attributed to P Grammatico.
Lentigo maligna is an early cutaneous neoplastic lesion. This article presents the cytogenetic, ultrastructural, and phenotypic characterization of a primary cell culture obtained from a patient affected with lentigo maligna. Two cellular clones were identified, both characterized by chromosomal markers involving chromosome 10 with a breakpoint at 10q26.
We report two related patients, presenting duplication 20p, with a characteristic phenotype including normal growth pattern, mental and psychomotor retardation, reduced motor coordination, poor language development, round face and prominent cheeks, vertebral and dental anomalies, and renal malformations. Familial chromosome analysis showed a balanced translocation t(20;21)(p11;q22) in three members of the family. These cases, together with those previously reported in the literature, allow us to make a better delineation of the duplication 20p syndrome, identifying more clearly the symptoms that must be considered as characteristic of this clinical picture.
The authors report on a case of balanced complex chromosomal rearrangement (BCCR) with phenotypic effect, describe the dysmorphisms and malformations observed, and discuss the various pathogenetic mechanisms. On the basis of these considerations, they underline the need for careful reporting of examined cases, distinguishing the characteristic signs from dysmorphisms that are described in several other chromosomal aberrations as well. Finally, they stress the importance of a more precise description of BCCRs for the purpose, among others, of a correct formulation of reproductive risk.
Although many reports on chromosome changes in human malignant melanoma (HMM) have been published, it is still impossible to define the significance of the different markers reported. In fact, we think that the difficulties in interpreting the chromosomal abnormalities could be due to poorly defined clinical conditions and a lack of correlation with cytological and histological analyses. To verify this hypothesis, we studied 10 cell lines obtained from 8 patients affected by cutaneous malignant melanoma that were well defined for their clinical, histologic, and cytogenetic aspects. No significant correlation was found among these parameters, and, hence, the cytogenetics findings cannot be used to determine a more detailed diagnosis or a more definite prognosis.
The authors report a patient affected with mental retardation, dysarthria, bilateral testicular hypoplasia and extensive ulcers of the lower limbs. Clinical study and laboratory tests revealed 48,XXYY syndrome. The authors confirm the importance of differential diagnosis from Klinefelter syndrome, illustrating the parameters and the pathology of both syndromes. They discuss the hypotheses concerning the pathogenesis of the ulcerations, and stress the importance of clinical and genetic characterization, leading to a differentiated prognosis of social capacity and prospect of working.
A continuous human cell line RN-GA was established from a stage-III primary neuroblastoma prior to therapy. Light and electron microscopic analysis of the biopsy showed morphological features typical of neuroectodermal origin. Relative cellular DNA content and N-myc oncogene copy number were also analyzed in the biopsy tissue: the tumor cells presented a near-diploid genome with N-myc amplification. The derived tumor cell line expressed distinctive ultrastructural, cytogenetic and immunological markers of neuroblastoma. Moreover, cells from the culture could be serially transplanted into splenectomized-irradiated nude mice, where they formed a progressively growing solid tumor. Surprisingly, the cells in culture did not show any N-myc amplification, while they retained a near-diploid DNA content. We propose that several techniques (electron microscopy, oncogene analysis, flow cytometry, cytogenetics, tissue culture, cell antigen immunodetection) should be used to establish a firm diagnosis and a correct clinical grading of this tumor. The establishment of this continuous cell line should be valuable as an experimental in vitro system for further studies of neuroblastoma biology and morphology.
A case of double bilateral renal vessels in both twins of a MZ pair is reported for the first time. Even in non-twins, the anomalies reported so far involved the inferior polar arteries in agreement with the embryological development. The two male twins, examined at the age of 14 years, had simultaneously developed a marked hypertension at the age of 7 years. Zygosity was determined by blood group and HLA analysis and various clinical tests were carried out to diagnose the condition. It is suggested that the anomaly is the result of a genetically induced early block in embryonic development.
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A centric fission of chromosome 4 is described in the proband and his mother, both phenotypically normal. In addition, partial monosomy for the long arm or the short arm or both of chromosome 4 may have been present in two of the proband's sibs who died in infancy and childhood, respectively.
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