Fiorella Shabtai

Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood

The case of a 40‐year‐old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pig‐mented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.

On the meaning of fragile sites in cancer risk and development.

In the last few years, there has been increasing concern about the possible involvement of fragile sites in cancer risk and development. Patients with malignancies and family histories of cancer who presented with constitutional fragile sites are reported here. These findings are discussed with regard to the familial risk for cancer and the tissue specificity of the malignancy in relation to the different fragile sites. The hypothesis is advanced that these may be sites of viral DNA modification, probably representing areas where genes that are important for the metabolism of the virus are located. On the other hand, these genes may well be cellular (proto)oncogenes. We believe that fragile sites may increase the risk for cancer, not by being break-prone points at oncogene locations, but through more complex mechanisms that are not easy to predict.

49,XYYYY. A case report.

A 14‐month‐old boy with a 49, XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.

The fragile site on chromosome 16 (q21q22). Data on four new families.

SummaryThe significance of the fragile site on 16 (q21q22) has not yet been fully evaluated. New data will contribute to the understanding of this cytogenetic finding. Therefore we report on four families where a chromosome 16 with fragile site was segregating and such problems as infertility, abortions, malformations, and ancuploidy were present. The hypothesis that this fragile site is a site of viral modification (or integration?) is considered.

Cytogenetic study of patients with carcinoma of the colon and rectum: particular C-band variants as possible markers for cancer proneness

A possible involvement of chromosomal heterochromatic polymorphisms in propensity to cancer has been considered and discussed by several investigators who studied groups of patients presenting with different forms of malignancy. We report a cytogenetic study on the circulating lymphocytes of patients suffering from colorectal carcinoma, most of whom were of European origin. Significantly increased incidence of polymorphisms of chromosomes #1 and #9 was found, especially partial inversions (PI). Emphasis is given to the problem of selecting adequate controls, which must be as homogeneous as possible.

Involvement of chromosome 22 in a Merkel cell carcinoma in a patient with a previous meningioma

The relatively simple cytogenetic findings in an aggressive metastatic Merkel cell carcinoma are reported. Deletion 2p was found in 100% of the cells. Nevertheless, this was considered a secondary (metastatic?) change because the same aberration has been found in several other kinds of malignancy. The involvement of chromosome 22 [del(22q) and -22] in 85% of the cells seemed more intriguing, considering the fact that the Merkel cell carcinoma followed a previous meningioma.

Chromium chloride induces chromosomal aberrations in human lymphocytes via indirect action

The aim of this study was to examine the possible clastogenic effects of trivalent chromium chloride (CrCl3) as the results in the literature are non-conclusive. Under the conditions used in this study Cr(III) induces chromosomal aberrations in phytohemagglutinin(PHA)-stimulated human lymphocytes. This activity, however, is suppressed by the antioxidants superoxide dismutase (SOD) (scavenger of O-.2), the SOD-like agents, catalase and mannitol (specific scavenger of OH.). The possibility that oxygen free radicals could evolve through stimulation of the arachidonic acid cascade is suggested using suitable inhibitors.

A new familial "fragile site" on chromosome 16 (q23-24). Cytogenetic and clinical considerations

SummaryA new familial fragile site at 16q23-24 is documented, and the clinical and cytogenetic data on three families and some individual patients are reported. The importance of differentiating this fragile site from that recognized previously at 16q22 is pointed out.

Fibrous dysplasia and cherubism as an hereditary familial disease: Follow-up of four generations

Five cases of dysplasia of the jaws in one family which has been under our observation since 1970 are reported. The disease appeared as a mixed display of jaw lesions, in some members as fibrous dysplasia and in others as cherubism. We were able to trace the disorder through an unbroken line of four generations, and thus to demonstrate autosomal dominant inheritance. Cytogenetic analysis performed on three members of this family revealed a significantly increased rate of chromosomal breakage.

New anomalies found in the 11q-syndrome.

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23‐q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 1 lq‐, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.