RESUMEN
As marginalized communities continue to bear disproportionate impacts from environmental hazards, we urgently call for researchers and institutions to elevate the principles of Environmental Justice. The American Geophysical Union (AGU) GeoHealth section supports members' engagement in health-related community-engaged and community-led transdisciplinary research. We highlight intersectional research that provides examples and actions for both individuals and organizations on community science and trust building, removing barriers created by scientific agency priorities and career expectations, and opportunities in education and policy. Justice does not start or end at one meeting; this is ongoing work that is active, evolving, and an ethical responsibility of AGU's membership.
RESUMEN
Contiguous gene syndromes are characterized by deletions or duplications of specific chromosomal segments involving clusters of single genes. Although these syndromes are associated with distinct clinical phenotypes, these features are difficult to distinguish in the newborn and early childhood periods. In such cases, demonstration of chromosomal involvement through cytogenetic studies is of vital importance in arriving at an accurate diagnosis. In this article results of microdeletion analysis of 31 cases comprising 16 cases of Prader-Willi syndrome, 3 of Angelman syndrome, 7 of Miller-Dieker syndrome, and 5 of DiGeorge syndrome are reported. All patients were studied with both high-resolution chromosome analysis and fluorescence in situ hybridization. In the majority of cases there is 100% concordance between the two techniques. However, in one patient suspected of having DiGeorge syndrome with a normal karyotype at the 750 band level, fluorescence in situ hybridization identified a deletion within the critical region. Without fluorescence in situ hybridization studies on this patient, it would not have been possible to confirm the diagnosis of DiGeorge syndrome cytogenetically. Based on these results and other studies reported in the literature, it is recommended that all suspected cases of microdeletion syndromes should be studied using fluorescence in situ hybridization, irrespective of high-resolution chromosome results. However, because of the difficulties associated with clinical diagnosis of these syndromes, fluorescence in situ hybridization should not replace standard chromosome analysis.
Asunto(s)
Eliminación de Secuencia , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación/métodos , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Valor Predictivo de las Pruebas , SíndromeRESUMEN
We report on a girl with a de novo monosomy Xpter-->Xp22.3 and trisomy 3pter-->3p23, normal development and stature, mildly affected phenotype, and learning disabilities with a low normal level of intelligence. Late replication studies using BudR demonstrated that the entire der(X) was inactive in 30% of cells. In 62% of cells the inactivation did not spread to the autosomal segment in the der(X). The normal X was inactivated in 8% of cells. Quantitative X-inactivation studies using the human androgen receptor locus assay (HAR) on peripheral leukocytes and buccal epithelial cells showed extreme skewing of methylation (90.4% of the paternal allele). The correlation of cytogenetic and molecular data suggest that the mild phenotype of the proposita is most likely due to preferential inactivation of the entire der(X), which seems to be of paternal origin.
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 3/genética , Cromosoma X/genética , Preescolar , Bandeo Cromosómico , Deleción Cromosómica , ADN/sangre , Compensación de Dosificación (Genética) , Femenino , Marcadores Genéticos , Humanos , Monosomía , Familia de Multigenes , Fenotipo , Receptores Androgénicos/genética , Receptores Androgénicos/metabolismo , Trisomía , Cromosoma X/metabolismoRESUMEN
Two rare cases of 6p partial deletion (6p23----pter) are described. Both patients are at or past the adolescent stage, with severe mental retardation and severe to moderate developmental retardation. Physical dysmorphic features that stand out are: short forehead, borderline microcephaly, low-set malformed ears, hyperplastic nares, dental anomalies and short terminal phalanges. The diversity of the phenotypic features has considerable variations in patients with ring of 6, apparently reflecting the relative loss of p and q arms. A case of a larger terminal deletion and a report of an interstitial deletion is also reviewed.