X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion:This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

Genetic variation in LIN28B is associated with the timing of puberty.

The timing of puberty is highly variable. We carried out a genome-wide association study for age at menarche in 4,714 women and report an association in LIN28B on chromosome 6 (rs314276, minor allele frequency (MAF) = 0.33, P = 1.5 x 10(-8)). In independent replication studies in 16,373 women, each major allele was associated with 0.12 years earlier menarche (95% CI = 0.08-0.16; P = 2.8 x 10(-10); combined P = 3.6 x 10(-16)). This allele was also associated with earlier breast development in girls (P = 0.001; N = 4,271); earlier voice breaking (P = 0.006, N = 1,026) and more advanced pubic hair development in boys (P = 0.01; N = 4,588); a faster tempo of height growth in girls (P = 0.00008; N = 4,271) and boys (P = 0.03; N = 4,588); and shorter adult height in women (P = 3.6 x 10(-7); N = 17,274) and men (P = 0.006; N = 9,840) in keeping with earlier growth cessation. These studies identify variation in LIN28B, a potent and specific regulator of microRNA processing, as the first genetic determinant regulating the timing of human pubertal growth and development.

Lettres patentes du Roy, pour l'enregistrement de quelques articles des traitez de paix & de commerce, conclus à Utrecht . Données à Versailles le 7. avril 1714

[Traité. 1713-04-11. Utrecht. France-Savoiefrançais)]

A-7 Statistical Report On FIP Applications And Cases Discontinued, June 2005

A-7 Statistical Report On FIP Applications And Cases Discontinued, June 2005

A-7 Statistical Report On FIP Applications And Cases Discontinued, July 2005

A-7 Statistical Report On FIP Applications And Cases Discontinued, July 2005

7

Climate change data and predictions for the Himalayas are very sparse and uncertain, characterized by a ?Himalayan data gap? and difficulties in predicting changes due to topographic complexity. A few reliable studies and climate change models for Nepal predict considerable changes: shorter monsoon seasons, more intensive rainfall patterns, higher temperatures, and drought. These predictions are confirmed by farmers who claim that temperatures have been increasing for the past decade and wonder why the rains have ?gone mad.? The number of hazard events, notably droughts, floods, and landslides are increasing and now account for approximately 100 deaths in Nepal annually. Other effects are drinking water shortages and shifting agricultural patterns, with many communities struggling to meet basic food security before climatic conditions started changing. The aim of this paper is to examine existing gaps between current climate models and the realities of local development planning through a case study on flood risk and drinking water management for the Municipality of Dharan in Eastern Nepal. This example highlights current challenges facing local-level governments, namely, flood and landslide mitigation, providing basic amenities ? especially an urgent lack of drinking water during the dry season ? poor local planning capacities, and limited resources. In this context, the challenge for Nepal will be to simultaneously address increasing risks caused by hazard events alongside the omnipresent food security and drinking water issues in both urban and rural areas. Local planning is needed that integrates rural development and disaster risk reduction (DRR) with knowledge about climate change considerations. The paper concludes with a critical analysis of climate change modeling and the gap between scientific data and low-tech and low capacities of local planners to access or implement adequate adaptation measures. Recommendations include the need to bridge gaps between scientific models, the local political reality and local information needs.

ABD e-News October 7, 2005

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