Sarcoma mieloide: Caso clínico con trisomia 11 / Myeloid sarcoma: Report of one case with trisomy 11

Myeloid sarcoma is a form of extra-medullary myeloid neoplasia. Cytogenetic characterization is hampered in the absence of invasion to the bone marrow, origin of cells that are usually studied in cytogenetic studies. We report a 13years old mole presenting with a mass in the right shoulder. A biopsy of the tumor disclosed a Myeloid Sarcoma. A conventional cytogenetic study of a bone marrow aspirate did not show t (8;21) translocation. A fluorescent in situ hybridization (FISH) performed in the paraffin embedded biopsy of the tumor, detected a chromosome 11 trisomy.

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi / Clinical, genetic and molecular features in 45 patients with Prader-Willi Syndrome

Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause of genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25percent to uniparental disomy and 1percent to mutations in the imprinting center. Aim: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and methods: Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. Results: Twenty three (51.1percent) patients had a delection, 13 (28.9percent) patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients aged 12 months or less, the clinical score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. Conclusions: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS .

Malformaciones congénitas y exposición a pesticidas / Congenital malformations and pesticide exposure

Background: Chronic pesticide exposure is a recognized risk for human health. The frequency of congenital malformations in exposed people, can be used for epidemiological studies assessing reproductive risk secondary to toxic exposure. Aim: To study the association between the incidence of congenital malformations and parent's exposure to pesticides. Material and methods: A prospective study of cases and controls. The exposure could be caused by occupational activities or residence around fumigated crops. The records of cases and controls from the surveillance carried out in the Hospital Regional de Rancagua were analyzed. This hospital is active member of a collaborative study of congenital malformations in Latin America. Results: In two years there was a total of 453 newborns (18 stillborn) with congenital malformations, with an incidence of 41.24 ä. Considering only children born alive, the paired analysis of cases and controls showed an association of congenital malformations with a history of maternal exposure, with an attributable fraction of 54.4 percent. Conclusions: These results, showing an association between pesticide exposure and congenital malformations, should be analyzed in the future by a logistic regression test