Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report

The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case report and a comparative review of clinical findings on this condition, focusing on speech-language development, cognitive abilities and swallowing evaluation. We suggest that oropharyngeal dysphagia should be further investigated, considering that pulmonary and nutritional disorders affect the survival and quality of life of the patient. As far as we know, this is the first study of a patient with partial trisomy 9p described with oropharyngeal dysphagia.

Trisomy X and 1 29 translocation in infertile heifers

In a group of 12 Pitangueiras breed heifers exhibiting a high return rate to service, three were noted to be carriers of the 1 29 translocation. One of the heifers exhibited trisomy for the X-chromosome in addition to the 1 29 translocation. The appearance and external genitalia of the 1 29 T; trisomy X heifer were not altered, although on rectal examination the internal genitalia, including the ovaries, appeared similar to that of a prepubertal heifer. © 1987.

Hemangioendothelioma of bone in a patient with a constitutional supernumerary marker

A 13-year old girl was diagnosed as having a bone hemangioendothelioma. Cytogenetic studies identified the presence of a small supernumerary marker chromosome in this patient. Classical cytogenetic methods using G-, C-, Ag-NOR-banding were supplemented by spectral karyotyping (SKY) and fluorescence in situ hybridization to reveal a karyotype 47,XX,+mar.ish der(22)(D22S543+) karyotype in cells derived from the tumor and lymphocytes. These findings suggest that the supernumerary marker chromosome originated from the proximal centromeric region of chromosome 22, and that trisomy of the region 22q11: was not associated with adverse phenotypic effects, but that the presence of trisomy 22q11 may be related to the development of this tumor. (C) Elsevier B.V., 1999. All rights reserved.

Detection of numerical chromosome anomalies in interphase cells of benign and malignant thyroid lesions using fluorescence in situ hybridization

Benign and malignant thyroid tumors constitute a wide range of neoplasias showing recurrent chromosome abnormalities. In an attempt to characterize specific numerical chromosome abnormalities in thyroid tissues, We present here the findings from a study of archival samples depicted by 10 malignant tumors, 30 benign lesions, and 10 normal thyroid tissues. Fluorescence in situ hybridization was performed on noncultured samples using biotinylated centromere-specific probes for chromosomes 7, 10, and 17. Trisomy or tetrasomy 7 were present in 19 benign and in 7 malignant tumors. Trisomy 10 or 17 were observed in 18 adenomas or goiters and in 9 carcinomas, and monosomy 17 was seen in 2 carcinomas. Our findings suggest that such abnormalities are an in vivo phenomenon and may be important in the neoplastic proliferation of thyroid gland. (C) Elsevier B.V., 2000. All rights reserved.

Aneuploidies, deletion, and overexpression of TP53 gene in intestinal metaplasia of patients without gastric cancer

Gastric carcinogenesis is attributable to interacting environmental and genetic factors, through a sequence of events including intestinal metaplasia. Using a fluorescence in situ hybridization technique, we investigated the occurrence of ancuploidies of chromosomes 3, 7, 8, 9, and 17, TP53 gene deletion, and expression of p53 in 21 intestinal metaplasia (IM) samples from cancer-free patients and in 20 gastric adenocarcinoma samples. Aneuploidies were found in 71% (15/21) of the IM samples. Trisomy of chromosomes 7 and 9 occurred mainly in complete-type IM; in the incomplete type, trisomy of chromosomes 7 and 8 were more commonly found. The TP53 gene deletion was observed in 60% (3/5) of the IM cases, and immunohistochemistry revealed p53 overexpression in 12% (2/17) of the analyzed IM cases. All gastric adenocarcinoma cases presented higher frequencies of trisomy or tetrasomy of chromosomes 3, 7, 8, 9, and 17. The TP53 deletion was found in all three of the gastric adenocarcinoma analyzed for it, and immunohistochemistry detected overexpression of protein p53 in 80% (12/15) of the analyzed cases. Our study revealed for the first time the presence of aneuploidies of chromosomes 7, 8, 9, and 17 and of TP53 gene deletion and overexpression in IM samples from cancer-free patients. These results suggest that IM and gastric adenocarcinoma may share the same genetic alterations. (C) 2004 Elsevier B.V. All rights reserved.

GENETIC INSTABILITY IN NERVE SHEATH CELL TUMORS

After in vitro culture, we analyzed cytogenetically four acoustic nerve neurinomas, one intraspinal neurinoma and one neurofibroma obtained from unrelated patients. Monosomy of chromosomes 22 and 16 was an abnormality common to all cases, followed in frequency by loss of chromosomes 18 (three cases) and chromosomes 8, 17 and 19 (two cases). Trisomy of chromosome 20 was also detected in two cases. Structural rearrangements were detected at low frequencies, with del(10)(p12) being present in two cases. In addition, we observed cell subpopulations showing a certain degree of genetic instability, reflected by the presence of polyploid cells with inconsistent abnormalities, endoreduplications and telomeric associations resulting in dicentric chromosomes. It is probable that these cytogenetic abnormalities represent some kind of evolutionary advantage for the in vitro progression of nerve sheath tumors.

CYTOGENETIC REPORT OF A MALE BREAST-CANCER

The cytogenetic findings on G-banding in an infiltrating ductal breast carcinoma in a 69-year-old man are reported. The main abnormalities observed were trisomy of chromosomes 8 and 9 and structural rearrangement in the long arm of chromosome 17 (add(17)(q25)). Our results confirm the trisomy of chromosome 8 in the characterization of the subtype of ductal breast carcinomas and demonstrate that chromosome 17, which is frequently involved in female breast cancers, is also responsible for the development or progression of primary breast cancers in males.

Cytogenetic alterations in chagasic achalasia compared to esophageal carcinoma

Patients with chagasic achalasia (megaesophagus) are liable to have an additional 1.7-20% possibility of developing esophageal squamous cell carcinoma (ESCC). We applied a fluorescence in situ hybridization technique in 20 such patients and found aneuploidies of chromosomes 7, 11, and 17 in 60% (12 of 20 specimens) and deletion of the TP53 gene in 54.5% (6 of 11 specimens; it was only possible to obtain data by FISH technique from 11 of the 20 achalasia patients). The main aneuploidies detected were chromosome 7 monosomy or trisomy (35%) in mid-third megaesophagus cases, and chromosome 17 monosomy or trisomy (25%) in distal-third cases. TP53 gene deletion was more frequent in mid-third (62.5%) than in distal-third megaesophagus cases (40%). In chagasic megaesophagus, no amplification of the cyclin D1 gene (CCND1) was observed. Comparing chagasic megaesophagus to ESCC, we found a higher frequency of aneuploidies in all 10 tumors. The main alterations were trisomy or tetrasomy of chromosomes 17 (90%), 11 (70%), and 7 (70%). Amplification of CCND1 was evidenced as a cluster in 70% of the tumors (22-99% of nuclei), while TP53 gene deletion occurred in 100%. To our knowledge, this is the first cytogenetic analysis of chagasic megaesophagus to show that aneuploidies of chromosomes 7, 11, and 17, and TP53 gene deletion might be related to increased risk for malignancy. (C) 2004 Elsevier B.V. All rights reserved.

Multiple cytogenetic clones in a basal cell carcinoma

Chromosome analysis of short-term culture of a basal cell carcinoma showed five clonal chromosome abnormalities, t(9;14)(q12 or q13;p11), del(1)(q23 or q25), trisomy 5, trisomy 7, and monosomy X. In addition, several nonclonal structural and numerical changes were seen in the tumor cells.

Cytogenetic analysis of a multinodular thyroid goiter

Short-term cultures of a collagenase disaggregated multinodular goiter was shown by cytogenetic analysis to have the mosaic karyotype 47,XX,+7/48,XX,+7,+17/49,XX,+7,+10,+17. No cytogenetic data on goiter are available for comparison with the present case.

Cytogenetic findings in two basal cell carcinomas

We describe the cytogenetic study of two basal cell carcinomas. Only single chromosomally abnormal clones could be detected in both. In addition, many nonclonal changes were seen in the samples, which may represent small neoplastic clones or the result of a basic molecular defect induced by carcinogens.

Chromosome sensitivity to bleomycin in G2 lymphocytes from Down syndrome patients

Several studies have demonstrated that lymphocytes from patients with Down syndrome (DS) exhibit an increased frequency of chromosome aberrations when they are exposed to ionizing radiation or to chemicals at the G0 or G1 phases of the cell cycle, but not at G2 when compared to normal subjects. To determine the susceptibility of DS lymphocytes at G2 phase, bleomycin, a radiomimetic agent, was used to induce DNA breaks in blood cultures from 24 Down syndrome patients. All the patients with DS showed free trisomy 21 (47,XX + 21 or 47,XY + 21). Individuals that showed an average number of chromatid breaks per cell higher than 0.8 were considered sensitive to the drug. No control child showed susceptibility to bleomycin, and among the 24 patients with DS, only one was sensitive to the drug. No significant difference was observed between the two groups, regarding chromatid break frequencies in treated G2 lymphocytes. The distribution of bleomycin-induced breaks in each group of chromosomes was similar for DS and controls. No significant difference was found in the response to bleomycin between male and female subjects. Probably, the main factor involved in chromosome sensitivity of lymphocytes from patients with DS is the phase of the cell cycle in which the cell is treated.

Cytogenetic evaluation of 20 primary breast carcinomas

Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. All the samples were from untreated patients who presented the clinical symptoms for months or years before surgical intervention. Six cases showed axillary lymph node metastases. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes X, 19, 20, and 22 followed by gain of chromosomes 9 and 8. Among the structural anomalies observed, there was preferential involvement of chromosomes 11, 6, 1, 7, 3, and 12, supporting previous reports that these chromosomes may harbour genes of importance in the development of breast tumors. Two cases with a family history of breast cancer had in common total or partial trisomy 1.

Estudo das alterações cariotípicas, do rearranjo gênico BCR/ABL e do cromossomo 20 em leucemias

Leukemia is a genetic disease from a noncontrolled abnormal process of the hematopoietic cells' differentiation and proliferation. Some alterations of structure and number of chromosomes have been well and specifically observed in leukemia. The detection of these alterations is highly significant in providing the patients' diagnosis, prognosis and treatment as well as the understanding of the genetic bases of this disease. The purpose of this work is to study some chromosomal alterations in peripheral blood and/or bone marrow in patients with different leukemia types by means of conventional cytogenetic techniques, and also to investigate the presence of BCR/ABL gene rearrangement and some alterations in chromosome 20 by the FISH technique. Samples of peripheral blood and/or bone marrow of 28 patients, who were not under chemoor radio-therapeutic treatment, were studied: 15 with CML, 11 with AML and 2 with ALL. The alteration most frequent was t(9;22) in the CML, whose presence or absence was related to a good or bad prognosis, respectively. A case of AMI showed inv(16)(p13q22), related to a good prognosis. Some alterations not reported previously in the literature were found, such as the trisomy in chromosome 2 associated to chromosome Ph showing some disease progress in one of the CML cases and t(5;16)(q13;q22) in an AML patient. One of the cases was submitted to an allogeneic hone marrow transplant. The monitoring after the 23 rd day of transplant, detected 95% of the donor cells suggesting the procedure had succeeded. Two patients, an AMI and the other ALL, showed trisomy of chromosome 20 in the neoplastic cells. The results showed the importance of the cytogenetic analysis in relation to leukemia, its direct benefits to the patients and the biological mechanisms involved in this disease. They also allowed the introduction in the Genetic Service of FAMERP techniques to obtain the bone marrow metaphases and the FISH technique.