Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400006
P. Peitl, Elza T. Sakamoto-Nojo, I. Cólus
The organophosphorus insecticide Nuvacron (Monocrotophos) is a very toxic agent widely utilized in Brazilian agriculture. To evaluate the clastogenic potential of this insecticide, in vivo and in vitro micronucleus (MN) assay experiments were carried out on Swiss mice and on Chinese hamster ovary (CHO) cells, respectively. Nuvacron administered at doses of 2.5 and 5.0 mg/kg induced a statistically significant increase in the frequencies of MN detected in polychromatic bone marrow erythrocytes from animals (six/group) treated ip 24 h before. Exponentially growing CHAO cells were treated continuously (16h) with Nuvacron diluted in water to final concentrations of 1, 10, 100, 200, and 400 mg/ml. Three experiments were carried out using the cytokinesis-block method and a total of 6000 binucleated cells were scored to determine MN frequencies. A statistically significant increase in the frequencies of MN was observed for the cells treated with 1 and 10 mg/ ml Nuvacron. A marked decrease in cell proliferation rates was observed for CHO cultures treated with higher concentrations. These data demonstrate that Nuvacron has a genotoxic effect on both in vivo and in vitro mammalian test systems.
有机磷杀虫剂Nuvacron是巴西农业中广泛使用的剧毒杀虫剂。为了评价该杀虫剂的致裂潜能，分别在瑞士小鼠和中国仓鼠卵巢(CHO)细胞上进行了体内和体外微核(MN)测定实验。Nuvacron给药剂量为2.5和5.0 mg/kg时，24小时前处理动物(每组6只)的多色骨髓红细胞中检测到MN的频率有统计学意义的增加。用Nuvacron水稀释至终浓度分别为1、10、100、200和400 mg/ml，连续处理指数生长的CHAO细胞(16h)。采用细胞分裂阻滞法进行了3次实验，共对6000个双核细胞进行评分，以确定MN频率。在1和10 mg/ ml Nuvacron处理的细胞中，MN的频率有统计学意义的增加。较高浓度的CHO培养物显著降低细胞增殖率。这些数据表明，Nuvacron在体内和体外哺乳动物测试系统中都具有遗传毒性作用。
{"title":"Genotoxic activity of the insecticide Nuvacron (Monocrotophos) detected by the micronucleus test in bone marrow erythrocytes of mice and in CHO cells","authors":"P. Peitl, Elza T. Sakamoto-Nojo, I. Cólus","doi":"10.1590/S0100-84551996000400006","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400006","url":null,"abstract":"The organophosphorus insecticide Nuvacron (Monocrotophos) is a very toxic agent widely utilized in Brazilian agriculture. To evaluate the clastogenic potential of this insecticide, in vivo and in vitro micronucleus (MN) assay experiments were carried out on Swiss mice and on Chinese hamster ovary (CHO) cells, respectively. Nuvacron administered at doses of 2.5 and 5.0 mg/kg induced a statistically significant increase in the frequencies of MN detected in polychromatic bone marrow erythrocytes from animals (six/group) treated ip 24 h before. Exponentially growing CHAO cells were treated continuously (16h) with Nuvacron diluted in water to final concentrations of 1, 10, 100, 200, and 400 mg/ml. Three experiments were carried out using the cytokinesis-block method and a total of 6000 binucleated cells were scored to determine MN frequencies. A statistically significant increase in the frequencies of MN was observed for the cells treated with 1 and 10 mg/ ml Nuvacron. A marked decrease in cell proliferation rates was observed for CHO cultures treated with higher concentrations. These data demonstrate that Nuvacron has a genotoxic effect on both in vivo and in vitro mammalian test systems.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121138516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400021
J. M. Agostini, P. Otto, A. Wajntal
Chromosome abnormalities and the mitotic index in lymphocyte cultures and micronuclei in buccal mucosa cells were investigated in a sample of underground mineral coal miners from Southern Brazil. A decreased mitotic index, an excess of micronuclei and a higher frequency of chromosome abnormalities (fragments, polyploidy and overall chromosome alterations) were observed in the miners when compared to age-paired normal controls from the same area. An alternative assay for clastogenesis in occupational exposition was tested by submitting lymphocytes from non-exposed individuals to a pool of plasmas from the exposed population. This assay proved to be very convenient, as the lymphocytes obtained from the same individuals can be used as target as well as control cells. Also, it yielded a larger number of metaphases and of successful cultures than with common lymphocyte cultures from miners. A significantly higher frequency of chromatid gaps, fragments and overall alterations were observed when lymphocytes from control subjects were exposed to miner plasma pools. Control plasma pools did not significantly induce any type of chromosome alterations in the cultures of normal subjects, thus indicating that the results are not due to the effect of the addition of plasma pools per se.
{"title":"Chromosome damage in underground coal miners: detection by conventional cytogenetic techniques and by submitting lymphocytes of unexposed individuals to plasma from at-risk groups","authors":"J. M. Agostini, P. Otto, A. Wajntal","doi":"10.1590/S0100-84551996000400021","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400021","url":null,"abstract":"Chromosome abnormalities and the mitotic index in lymphocyte cultures and micronuclei in buccal mucosa cells were investigated in a sample of underground mineral coal miners from Southern Brazil. A decreased mitotic index, an excess of micronuclei and a higher frequency of chromosome abnormalities (fragments, polyploidy and overall chromosome alterations) were observed in the miners when compared to age-paired normal controls from the same area. An alternative assay for clastogenesis in occupational exposition was tested by submitting lymphocytes from non-exposed individuals to a pool of plasmas from the exposed population. This assay proved to be very convenient, as the lymphocytes obtained from the same individuals can be used as target as well as control cells. Also, it yielded a larger number of metaphases and of successful cultures than with common lymphocyte cultures from miners. A significantly higher frequency of chromatid gaps, fragments and overall alterations were observed when lymphocytes from control subjects were exposed to miner plasma pools. Control plasma pools did not significantly induce any type of chromosome alterations in the cultures of normal subjects, thus indicating that the results are not due to the effect of the addition of plasma pools per se.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128175690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400017
M. Guion-Almeida, N. Kokitsu-Nakata
We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.
{"title":"Delleman syndrome in a Brazilian boy","authors":"M. Guion-Almeida, N. Kokitsu-Nakata","doi":"10.1590/S0100-84551996000400017","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400017","url":null,"abstract":"We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126665314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400013
Adriana P. Frederico, P. Ruas, M. A. Marin-Morales, C. Ruas, J. Nakajima
Karyotypes of six species of the genus Stevia from Southern Brazil were studied, utilizing root tip metaphases. All species were diploid with 2n = 22 chromosomes. It was possible to identify each species by chromosome morphology. The basic chromosome number for Brazilian species of Stevia is X = 11. This number is also found in almost all South American species. We suggest that in Stevia there is an evolutionary trend toward chromosomal rearrangement, caused mainly by pericentric inversions. It was found that, in addition to aneuploidy and polyploidy, chromosomal rearrangements are common in the tribe Eupatorieae.
{"title":"Chromosome studies in some Stevia. Cav. (Compositae) species from Southern Brazil","authors":"Adriana P. Frederico, P. Ruas, M. A. Marin-Morales, C. Ruas, J. Nakajima","doi":"10.1590/S0100-84551996000400013","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400013","url":null,"abstract":"Karyotypes of six species of the genus Stevia from Southern Brazil were studied, utilizing root tip metaphases. All species were diploid with 2n = 22 chromosomes. It was possible to identify each species by chromosome morphology. The basic chromosome number for Brazilian species of Stevia is X = 11. This number is also found in almost all South American species. We suggest that in Stevia there is an evolutionary trend toward chromosomal rearrangement, caused mainly by pericentric inversions. It was found that, in addition to aneuploidy and polyploidy, chromosomal rearrangements are common in the tribe Eupatorieae.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114985160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400019
M. Pinheiro, N. Freire‐Maia
We describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Fried's tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).
{"title":"Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia","authors":"M. Pinheiro, N. Freire‐Maia","doi":"10.1590/S0100-84551996000400019","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400019","url":null,"abstract":"We describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Fried's tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128554665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400012
M. C. Filippi, A. Prabhu
Seven sources of resistance to the two predominant races IB-1 and IB-9 of the rice blast pathogen Pyricularia grisea were selected based on leaf blast reaction in tests conducted under controlled greenhouse conditions. Crosses involving resistant and susceptible parents were made to study the inheritance of the disease reaction for different sources of resistance. The F1 and F2 progenies of all crosses, including backcrosses to resistant and susceptible parents, were tested for reaction to leaf blast. The data showed that resistance is controlled by one to three genes that segregate independently in most of the donors. Non-allelic interaction among resistance genes, including dominant epistasis, was identified.
{"title":"Inheritance of blast resistance in rice to two Pyricularia grisea races, IB-1 and IB-9","authors":"M. C. Filippi, A. Prabhu","doi":"10.1590/S0100-84551996000400012","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400012","url":null,"abstract":"Seven sources of resistance to the two predominant races IB-1 and IB-9 of the rice blast pathogen Pyricularia grisea were selected based on leaf blast reaction in tests conducted under controlled greenhouse conditions. Crosses involving resistant and susceptible parents were made to study the inheritance of the disease reaction for different sources of resistance. The F1 and F2 progenies of all crosses, including backcrosses to resistant and susceptible parents, were tested for reaction to leaf blast. The data showed that resistance is controlled by one to three genes that segregate independently in most of the donors. Non-allelic interaction among resistance genes, including dominant epistasis, was identified.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130912353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400022
L. Yamamoto, A. Lopes, Angelito Harb-Gama, M. Nagai
The incidence of TP53 point mutations and loss of heterozygosity (LOH) of chromosome 17 in colorectal tumors was determined in a group of Brazilian patients. We screened DNA samples from tumors and distal normal mucosa of 39 patients with colorectal cancer, for TP53 mutations by PCR-SSCP (single-strand conformation polymorphism) analysis. Chromosome 17 LOH was investigated using six PCR-based polymorphic markers and one VNTR probe. TP53 mutations were demonstrated in 15/39 of the cases. Mutations were distributed among all exons examined (five to eight), the majority of them being G/C to A/T transitions. LOH of chromosome 17p and 17q was detected in 70 and 46% of the tumors, respectively. There was a significant association between TP53 mutations and LOH in chromosome 17p (P = 0.0035) and 17q (P = 0.03). Although no correlation was observed between TP53 genetic alterations and clinical/ pathological characteristics, the association of TP53 mutations with loss of both chromosome 17 arms may indicate that TP53 inactivation provokes an unstable phenotype in tumor cells in colorectal tumors.
{"title":"TP53 mutations and loss of heterozygosity of chromosome 17 in colorectal tumors","authors":"L. Yamamoto, A. Lopes, Angelito Harb-Gama, M. Nagai","doi":"10.1590/S0100-84551996000400022","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400022","url":null,"abstract":"The incidence of TP53 point mutations and loss of heterozygosity (LOH) of chromosome 17 in colorectal tumors was determined in a group of Brazilian patients. We screened DNA samples from tumors and distal normal mucosa of 39 patients with colorectal cancer, for TP53 mutations by PCR-SSCP (single-strand conformation polymorphism) analysis. Chromosome 17 LOH was investigated using six PCR-based polymorphic markers and one VNTR probe. TP53 mutations were demonstrated in 15/39 of the cases. Mutations were distributed among all exons examined (five to eight), the majority of them being G/C to A/T transitions. LOH of chromosome 17p and 17q was detected in 70 and 46% of the tumors, respectively. There was a significant association between TP53 mutations and LOH in chromosome 17p (P = 0.0035) and 17q (P = 0.03). Although no correlation was observed between TP53 genetic alterations and clinical/ pathological characteristics, the association of TP53 mutations with loss of both chromosome 17 arms may indicate that TP53 inactivation provokes an unstable phenotype in tumor cells in colorectal tumors.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127868044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400015
N. Nassar, C. G. Carvalho, C. Vieira
The use of mentor pollen has enabled successful hybridization between cassava, Manihot esculenta Crantz, and the wild species M. pohlii Warwa. Killed pollen of a cross compatible type produced by freeze-thawing was mixed with incompatible pollen and the mixes were dusted on stigmas. This treatment resulted in production of seed in 4.9% of the total pollinations, compared to 0% in the case of untreated pollinations. The use of a bridge species, M. neusana Nassar, through the hybrid M. pohlii and M. neusana also proved successful in overcoming interspecific barriers between cassava and M. pohlii.
{"title":"Overcoming crossing barriers between cassava, Manihot esculenta Crantz and a wild relative, M. pohlii Warwa","authors":"N. Nassar, C. G. Carvalho, C. Vieira","doi":"10.1590/S0100-84551996000400015","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400015","url":null,"abstract":"The use of mentor pollen has enabled successful hybridization between cassava, Manihot esculenta Crantz, and the wild species M. pohlii Warwa. Killed pollen of a cross compatible type produced by freeze-thawing was mixed with incompatible pollen and the mixes were dusted on stigmas. This treatment resulted in production of seed in 4.9% of the total pollinations, compared to 0% in the case of untreated pollinations. The use of a bridge species, M. neusana Nassar, through the hybrid M. pohlii and M. neusana also proved successful in overcoming interspecific barriers between cassava and M. pohlii.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"106 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124611538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400020
B. Beiguelman, H. Krieger, Luciana Ferreira Da Silva
The proportion of maternal-age-independent patients estimated among 200 Brazilian Down syndrome children (59.6%) was significantly larger than that of maternal-age-dependent cases (40.4%). The latter proportion is the smallest observed in pertinent literature and due basically to the low mean maternal age of the population analyzed. Based on the remarkable correlation (r = 0.95) between the proportion of maternal-age-dependent patients and the mean maternal age of the general population, a simple predictive equation to estimate the proportion of maternal-age-dependent Down syndrome patients based on the mean maternal age of the general population is suggested in situations where reliable data on the incidence of this syndrome according to maternal age is not available.
{"title":"Maternal age and Down syndrome in Southeastern Brazil","authors":"B. Beiguelman, H. Krieger, Luciana Ferreira Da Silva","doi":"10.1590/S0100-84551996000400020","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400020","url":null,"abstract":"The proportion of maternal-age-independent patients estimated among 200 Brazilian Down syndrome children (59.6%) was significantly larger than that of maternal-age-dependent cases (40.4%). The latter proportion is the smallest observed in pertinent literature and due basically to the low mean maternal age of the population analyzed. Based on the remarkable correlation (r = 0.95) between the proportion of maternal-age-dependent patients and the mean maternal age of the general population, a simple predictive equation to estimate the proportion of maternal-age-dependent Down syndrome patients based on the mean maternal age of the general population is suggested in situations where reliable data on the incidence of this syndrome according to maternal age is not available.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"57 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116117532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.1590/S0100-84551996000400023
A. Ferreira, L. F. Mazzucatto, E. S. Ramos, J. M. Pina-Neto
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
{"title":"Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features","authors":"A. Ferreira, L. F. Mazzucatto, E. S. Ramos, J. M. Pina-Neto","doi":"10.1590/S0100-84551996000400023","DOIUrl":"https://doi.org/10.1590/S0100-84551996000400023","url":null,"abstract":"A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"235 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115572409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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