22194 Background: Breast cancer is the second leading cause of cancer deaths in Mexican females. ... more 22194 Background: Breast cancer is the second leading cause of cancer deaths in Mexican females. Various prognostic factors have been studied to determine proteins from genes implicated in cancer d...
Revista médica del Instituto Mexicano del Seguro Social
The development of new fields of study in genetics, as the -omic sciences (transcriptomics, prote... more The development of new fields of study in genetics, as the -omic sciences (transcriptomics, proteomics, metabolomics), has allowed the study of the regulation and expression of genomes. Therefore, nowadays it is possible to study global alterations--in the whole genome--and their effect at the protein and metabolic levels. Importantly, this new way of studying genetics has opened new areas of knowledge, and new cellular mechanisms that regulate the functioning of biological systems have been elucidated. In the clinical field, in the last years new molecular tools have been implemented. These tools are favorable to a better classification, diagnosis and prognosis of several human diseases. Additionally, in some cases best treatments, which improve the quality of life of patients, have been established. Due to the previous assertion, it is important to review and divulge changes in the study of genetics as a result of the development of the -omic sciences, which is the aim of this rev...
Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intrag... more Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.
Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two si... more Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
Virchow’s “cellular pathology” had placed the cell at the center of the theory of disease: cells,... more Virchow’s “cellular pathology” had placed the cell at the center of the theory of disease: cells, the bearers of life, are also the seat of diseases. If anyone wants to learn about disease, he must first of all study cells.
Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital d... more Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent‐1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.
Genetic and cytogenetic studies were performed in 110 children with retinoblastoma (57 girls and ... more Genetic and cytogenetic studies were performed in 110 children with retinoblastoma (57 girls and 53 boys), with 70% of cases being unilateral and 30% bilateral. The mean age of the patients at diagnosis was 22.6 months in unilateral and 11.1 months in bilateral cases. Sporadic cases were 94.5%, and the remaining were familial. There was no difference when the paternal age of sporadic cases was compared with that of familial cases. Three patients from a family exhibiting unilateral retinoblastoma had an interstitial deletion at band 13q14. The presence of other neoplasms and the importance of the genetic and chromosomic studies, for the purpose of genetic counseling, are discussed.
22194 Background: Breast cancer is the second leading cause of cancer deaths in Mexican females. ... more 22194 Background: Breast cancer is the second leading cause of cancer deaths in Mexican females. Various prognostic factors have been studied to determine proteins from genes implicated in cancer d...
Revista médica del Instituto Mexicano del Seguro Social
The development of new fields of study in genetics, as the -omic sciences (transcriptomics, prote... more The development of new fields of study in genetics, as the -omic sciences (transcriptomics, proteomics, metabolomics), has allowed the study of the regulation and expression of genomes. Therefore, nowadays it is possible to study global alterations--in the whole genome--and their effect at the protein and metabolic levels. Importantly, this new way of studying genetics has opened new areas of knowledge, and new cellular mechanisms that regulate the functioning of biological systems have been elucidated. In the clinical field, in the last years new molecular tools have been implemented. These tools are favorable to a better classification, diagnosis and prognosis of several human diseases. Additionally, in some cases best treatments, which improve the quality of life of patients, have been established. Due to the previous assertion, it is important to review and divulge changes in the study of genetics as a result of the development of the -omic sciences, which is the aim of this rev...
Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intrag... more Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.
Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two si... more Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
Virchow’s “cellular pathology” had placed the cell at the center of the theory of disease: cells,... more Virchow’s “cellular pathology” had placed the cell at the center of the theory of disease: cells, the bearers of life, are also the seat of diseases. If anyone wants to learn about disease, he must first of all study cells.
Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital d... more Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent‐1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.
Genetic and cytogenetic studies were performed in 110 children with retinoblastoma (57 girls and ... more Genetic and cytogenetic studies were performed in 110 children with retinoblastoma (57 girls and 53 boys), with 70% of cases being unilateral and 30% bilateral. The mean age of the patients at diagnosis was 22.6 months in unilateral and 11.1 months in bilateral cases. Sporadic cases were 94.5%, and the remaining were familial. There was no difference when the paternal age of sporadic cases was compared with that of familial cases. Three patients from a family exhibiting unilateral retinoblastoma had an interstitial deletion at band 13q14. The presence of other neoplasms and the importance of the genetic and chromosomic studies, for the purpose of genetic counseling, are discussed.
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