A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46,XX,del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of two previously reported cases in the literature with an interstitial 3p deletion.

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The biotrophic fungus Hemileia vastatrix causes coffee leaf rust (CLR), one of the most devastating diseases in Coffea arabica. Coffee, like other plants, has developed effective mechanisms to recognize and respond to infections caused by pathogens. Plant resistance gene analogs (RGAs) have been identified in certain plants as candidates for resistance (R) genes or membrane receptors that activate the R genes. The RGAs identified in different plants possess conserved domains that play specific roles in the fight against pathogens. Despite the importance of RGAs, in coffee plants these genes and other molecular mechanisms of disease resistance are still unknown. This study aimed to sequence and characterize candidate genes from coffee plants with the potential for involvement in resistance to H. vastatrix. Sequencing was performed based on a library of bacterial artificial chromosomes (BAC) of the coffee clone 'Híbrido de Timor' (HdT) CIFC 832/2 and screened using a functional marker. Two RGAs, HdT_ LRR_RLK1 and HdT_LRR_RLK2, containing the motif of leucine-rich repeat-like kinase (LRR-RLK) were identified. Based on the presence or absence of the HdT_LRR_RLK2 RGA in a number of differential coffee clones containing different combinations of the rust resistance gene, these RGAs did not correspond to any resistance gene already characterized (S H 1-9). These genes were also analyzed using qPCR and demonstrated a major expression peak at 24 h after inoculation in both the compatible and incompatible interactions between coffee and H. vastatrix. These results are valuable information for breeding programs aimed at developing CLR-resistant cultivars, in addition to enabling a better understanding of the interactions between coffee and H. vastatrix.

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