Assessing the Link between Diabetic Metabolic Dysregulation and Breast Cancer Progression.

Diabetes mellitus is a burdensome disease that affects various cellular functions through altered glucose metabolism. Several reports have linked diabetes to cancer development; however, the exact molecular mechanism of how diabetes-related traits contribute to cancer progression is not fully understood. The current study aimed to explore the molecular mechanism underlying the potential effect of hyperglycemia combined with hyperinsulinemia on the progression of breast cancer cells. To this end, gene dysregulation induced by the exposure of MCF7 breast cancer cells to hyperglycemia (HG), or a combination of hyperglycemia and hyperinsulinemia (HGI), was analyzed using a microarray gene expression assay. Hyperglycemia combined with hyperinsulinemia induced differential expression of 45 genes (greater than or equal to two-fold), which were not shared by other treatments. On the other hand, in silico analysis performed using a publicly available dataset (GEO: GSE150586) revealed differential upregulation of 15 genes in the breast tumor tissues of diabetic patients with breast cancer when compared with breast cancer patients with no diabetes. SLC26A11, ALDH1A3, MED20, PABPC4 and SCP2 were among the top upregulated genes in both microarray data and the in silico analysis. In conclusion, hyperglycemia combined with hyperinsulinemia caused a likely unique signature that contributes to acquiring more carcinogenic traits. Indeed, these findings might potentially add emphasis on how monitoring diabetes-related metabolic alteration as an adjunct to diabetes therapy is important in improving breast cancer outcomes. However, further detailed studies are required to decipher the role of the highlighted genes, in this study, in the pathogenesis of breast cancer in patients with a different glycemic index.

Automated Identification of Dental Implants: A New, Fast and Accurate Artificial Intelligence System.

INTRODUCTION: Prosthetic complications that occur to some implant prosthetics may require removal of the prosthesis for replacement or repair. Therefore, the presence of a technique to identify the type of dental implant is mandatory to provide the suitable components. Hence, the aim of the current study was to evaluate the accuracy of YOLOv8 object detection algorithm in automatic identification of the type of dental implant from digital periapical radiographs. METHODS: YOLOv8m-seg object detection algorithm was used to build a model to automatically identify the type of dental implant. A set of 2573 digital periapical radiographs for six distinct dental implants manufacturers were used to train the model. The outcomes were evaluated using precision, recall, F1 score and mAP. RESULTS: The overall accuracy of the YOLOv8m-seg model in terms of precision, recall, F1 score and mAP revealed values of 0.919, 0.98, 0.95 and 0.972 respectively. The average detection speed of the images was 1.3 seconds. The model was able to detect and identify multiple implants simultaneously on the same image. CONCLUSIONS: YOLOv8m-seg object detection algorithm is promising in identification of dental implants from periapical radiographs with high detection accuracy (97.2%), fast detection results and multi-implant detection from the same image. CLINICAL SIGNIFICANCE: This AI system can accurately identify the type of osseointegrated dental implants enabling dentists to provide the appropriate prosthetic components even if different implant systems are used within the same patient. This can save tremendous amounts of time, effort and cost for both the dentist and the patient.

Agroinfiltration Mediated Scalable Transient Gene Expression in Genome Edited Crop Plants.

Agrobacterium-mediated transformation is one of the most commonly used genetic transformation method that involves transfer of foreign genes into target plants. Agroinfiltration, an Agrobacterium-based transient approach and the breakthrough discovery of CRISPR/Cas9 holds trending stature to perform targeted and efficient genome editing (GE). The predominant feature of agroinfiltration is the abolishment of Transfer-DNA (T-DNA) integration event to ensure fewer biosafety and regulatory issues besides showcasing the capability to perform transcription and translation efficiently, hence providing a large picture through pilot-scale experiment via transient approach. The direct delivery of recombinant agrobacteria through this approach carrying CRISPR/Cas cassette to knockout the expression of the target gene in the intercellular tissue spaces by physical or vacuum infiltration can simplify the targeted site modification. This review aims to provide information on Agrobacterium-mediated transformation and implementation of agroinfiltration with GE to widen the horizon of targeted genome editing before a stable genome editing approach. This will ease the screening of numerous functions of genes in different plant species with wider applicability in future.

Exosome/Liposome-like Nanoparticles: New Carriers for CRISPR Genome Editing in Plants.

Rapid developments in the field of plant genome editing using clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) systems necessitate more detailed consideration of the delivery of the CRISPR system into plants. Successful and safe editing of plant genomes is partly based on efficient delivery of the CRISPR system. Along with the use of plasmids and viral vectors as cargo material for genome editing, non-viral vectors have also been considered for delivery purposes. These non-viral vectors can be made of a variety of materials, including inorganic nanoparticles, carbon nanotubes, liposomes, and protein- and peptide-based nanoparticles, as well as nanoscale polymeric materials. They have a decreased immune response, an advantage over viral vectors, and offer additional flexibility in their design, allowing them to be functionalized and targeted to specific sites in a biological system with low cytotoxicity. This review is dedicated to describing the delivery methods of CRISPR system into plants with emphasis on the use of non-viral vectors.

Using Multiplexed CRISPR/Cas9 for Suppression of Cotton Leaf Curl Virus.

In recent decades, Pakistan has suffered a decline in cotton production due to several factors, including insect pests, cotton leaf curl disease (CLCuD), and multiple abiotic stresses. CLCuD is a highly damaging plant disease that seriously limits cotton production in Pakistan. Recently, genome editing through CRISPR/Cas9 has revolutionized plant biology, especially to develop immunity in plants against viral diseases. Here we demonstrate multiplex CRISPR/Cas-mediated genome editing against CLCuD using transient transformation in N. benthamiana plants and cotton seedlings. The genomic sequences of cotton leaf curl viruses (CLCuVs) were obtained from NCBI and the guide RNA (gRNA) were designed to target three regions in the viral genome using CRISPR MultiTargeter. The gRNAs were cloned in pHSE401/pKSE401 containing Cas9 and confirmed through colony PCR, restriction analysis, and sequencing. Confirmed constructs were moved into Agrobacterium and subsequently used for transformation. Agroinfilteration in N. benthamiana revealed delayed symptoms (3-5 days) with improved resistance against CLCuD. In addition, viral titer was also low (20-40%) in infected plants co-infiltrated with Cas9-gRNA, compared to control plants (infected with virus only). Similar results were obtained in cotton seedlings. The results of transient expression in N. benthamiana and cotton seedlings demonstrate the potential of multiplex CRISPR/Cas to develop resistance against CLCuD. Five transgenic plants developed from three experiments showed resistance (60-70%) to CLCuV, out of which two were selected best during evaluation and screening. The technology will help breeding CLCuD-resistant cotton varieties for sustainable cotton production.

An Outlook on Global Regulatory Landscape for Genome-Edited Crops.

The revolutionary technology of CRISPR/Cas systems and their extraordinary potential to address fundamental questions in every field of biological sciences has led to their developers being awarded the 2020 Nobel Prize for Chemistry. In agriculture, CRISPR/Cas systems have accelerated the development of new crop varieties with improved traits-without the need for transgenes. However, the future of this technology depends on a clear and truly global regulatory framework being developed for these crops. Some CRISPR-edited crops are already on the market, and yet countries and regions are still divided over their legal status. CRISPR editing does not require transgenes, making CRISPR crops more socially acceptable than genetically modified crops, but there is vigorous debate over how to regulate these crops and what precautionary measures are required before they appear on the market. This article reviews intended outcomes and risks arising from the site-directed nuclease CRISPR systems used to improve agricultural crop plant genomes. It examines how various CRISPR system components, and potential concerns associated with CRISPR/Cas, may trigger regulatory oversight of CRISPR-edited crops. The article highlights differences and similarities between GMOs and CRISPR-edited crops, and discusses social and ethical concerns. It outlines the regulatory framework for GMO crops, which many countries also apply to CRISPR-edited crops, and the global regulatory landscape for CRISPR-edited crops. The article concludes with future prospects for CRISPR-edited crops and their products.

Hydrogen peroxide detoxifying enzymes show different activity patterns in host and non-host plant interactions with Magnaporthe oryzae Triticum pathotype.

Wheat blast caused by the hemibiotroph fungal pathogen Magnaporthe oryzae Triticum (MoT) pathotype is a destructive disease of wheat in South America, Bangladesh and Zambia. This study aimed to determine and compare the activities of antioxidant enzymes in susceptible (wheat, maize, barley and swamp rice grass) and resistant (rice) plants when interacting with MoT. The activities of reactive oxygen species-detoxifying enzymes; catalase (CAT), ascorbate peroxidase (APX), glutathione peroxidase (GPX), glutathione S-transferase (GST), peroxidase (POX) were increased in all plants in response to MoT inoculation with a few exceptions. Interestingly, an early and very high activity of CAT was observed within 24 h after inoculation in wheat, barley, maize and swamp rice grass with lower H2O2 concentration. In contrast, an early and high accumulation of H2O2 was observed in rice at 48 hai with little CAT activity only at a later stage of MoT inoculation. The activities of APX, GST and POD were also high at an early stage of infection in rice. However, these enzymes activities were very high at a later stage in wheat, barley, maize and swamp rice grass. The activity of GPX gradually decreased with the increase of time in rice. Taken together, our results suggest that late and early inductions of most of the antioxidant enzyme activities occurs in susceptible and resistant plants, respectively. This study demonstrates some insights into physiological responses of host and non-host plants when interacting with the devastating wheat blast fungus MoT, which could be useful for developing blast resistant wheat.

Perceived barriers and attitudes toward arteriovenous fistula creation and use in hemodialysis patients in Palestine.

In the dialysis center in Ramallah, we investigated the attitudes and perceived barriers to having arteriovenous fistula (AVF) in 156 patients. The current method of HD access was AVF in 52% and central venous catheter in 47%. Perceived causes of no or delayed AVF were: patient's refusal of AVF in 54.5%, late referral to a surgical evaluation in 31.3% and too long to surgical appointments in 14.2%. Among those who refused AVF, reasons were: concern about the surgical procedure in 42.5%, poor understanding of disease/access in 23.3%, fear of needles in 15.1%, denial of disease or need for HD in 17.8%, and cosmetic reasons in 1.4%. Forty six percent of patients believed they received education about AVF prior to the creation of HD access, and 73.7% would recommend AVF as the method of access due to the lower risk of infection (96%), easier to care for (16%), easier showering (14%), and better-associated hygiene (3%). In conclusion, the majority would recommend an AVF as the mode of vascular access for HD. The most common barrier to having an AVF was patient's refusal to undergo AVF creation because of their concern about the surgical procedure. A systematic evaluation of the process that precedes the creation of AVF may allow for better utilization.

Predialysis nephrology care amongst Palestinian hemodialysis patients and its impact on initial vascular access type.

Referral time for end-stage renal disease (ESRD) patients to nephrologists and initial vascular access method are considered significant factors that impact health outcomes at the time of hemodialysis (HD) initiation. Native arteriovenous fistula (AVF) is strongly recommended as initial access. However, little is known about the referral rate among ESRD receiving HD in Palestine and its correlation with AVF creation. In Ramallah Hemodialysis Center, we investigated the pre-dialysis nephrology care and AVF usage in 156 patients. Type of access at HD initiation was temporary central venous catheter (CVC) in 114 (73%), tunneled hemodialysis catheter (TDC) in 21 (13%) and AVF in 21 (13%). Out of all participants, 120 (77%) were seen by nephrologist prior to dialysis. Of the participants who initiated dialysis with a CVC, 36 (31%) had not received prior nephrology care. All participants who initiated dialysis with functional AVF had received prior nephrology care. Patients who were not seen by a nephrologist prior to HD initiation had no chance at starting HD with AVF, whereas 17% of those who had nephrology care >12 months started with AVF. In conclusion, a relatively large percentage of Palestinian HD patients who were maintained on HD did not have any predialysis nephrology care. In addition, patients who received predialysis nephrology care were significantly more likely to start their HD through AVF whereas all those without predialysis nephrology care started through CVC. More in-depth national studies focusing on improving nephrology referral in ESRD patients are needed to increase AVF utilization.

Cell Cycle Arrest in Different Cancer Cell Lines (Liver, Breast, and Colon) Induces Apoptosis under the Influence of the Chemical Content of Aeluropus lagopoides Leaf Extracts.

Natural products, especially secondary metabolites produced by plants under stressed conditions, are shown to have different pharmacological impacts from one to another. Aeluropus lagopoides is one of the common halophyte plants that survive under stressed conditions, and has been used for healing wounds and as a painkiller. The bioactivity and the chemical composition of this plant have been poorly investigated. Consequently, the chemical components of A. lagopoides leaves were extracted using hexane (nonpolar), ethyl acetate (semi-polar), and n-butanol (polar) to extract the most extensive variety of metabolites. The cytotoxicity and anticancer impact of extracted secondary metabolites were evaluated against breast (MCF-7), colon (HCT-116), and liver (HepG2) cancer cell lines using a SulphoRhodamine-B (SRB) test. Their mechanisms of action were verified by observing the appearance of apoptotic bodies using the fluorescent microscope, while their antiproliferative impacts were evaluated using a flow cytometer. Results revealed that secondary metabolites extracted using hexane and ethyl acetate had the highest cytotoxicity and thus the greatest anticancer activity effect on HepG2 with IC50 (24.29 ± 0.85 and 11.22 ± 0.679 µg/mL, respectively). On the other hand, flow cytometer results showed that secondary metabolites could inhibit the cell cycle in the G0/G1 phase. To ascertain the chemical composition⁻function relationship, the extracts were analyzed using LC-MS/MS. Accordingly, A. lagopoides hexane and ethyl acetate extracts may contain agents with anticancer potential.

Coadministration of Liposomal Amphotericin B and Contrast Medium Does Not Increase Risk of Kidney Injury.

Intravenous radiographic contrast medium and amphotericin B are commonly required in the care of patients with fungal infections. Both interventions have proposed nephrotoxicity through similar mechanisms. We systematically examined patients who received coadministration of liposomal amphotericin B (AmBisome; GE Healthcare) and intravenous contrast medium within a 24-h period and compared the results for those patients with the results for patients who underwent non-contrast medium studies. We found 114 cases and 85 controls during our study period. Overall, no increased risk of renal injury was seen with coadministration of these 2 agents. Adjustment for age, baseline kidney function, and other clinical factors through propensity score adjustment did not change this result. Our observations suggest that, when clinically indicated, coadministration of contrast medium and liposomal amphotericin B does not present excess risk compared with that from the administration of liposomal amphotericin B alone.

Molecular hydrogen production from amorphous solid water during low energy electron irradiation.

This work investigates the production of molecular hydrogen isotopologues (H2, HD, and D2) during low energy electron irradiation of layered and isotopically labelled thin films of amorphous solid water (ASW) in ultrahigh vacuum. Experimentally, the production of these molecules with both irradiation time and incident electron energy in the range 400 to 500 eV is reported as a function of the depth of a buried D2O layer in an H2O film. H2 is produced consistently in all measurements, reflecting the H2O component of the film, though it does exhibit a modest reduction in intensity at the time corresponding to product escape from the buried D2O layer. In contrast, HD and D2 production exhibit peaks at times corresponding to product escape from the buried D2O layer in the composite film. These features broaden the deeper the HD or D2 is formed due to diffusion. A simple random-walk model is presented that can qualitatively explain the appearance profile of these peaks as a function of the incident electron penetration.

SUTURE VERSUS FIBRIN GLUE MICRONEURAL ANASTOMOSIS OF THE FEMORAL NERVE IN SPRAGUE DEWLY RAT MODEL. A COMPARATIVE EXPERIMENTAL ASSESSMENT OF THE CLINICAL, HISTOLOGICAL AND STATISTICAL FEATURES.

INTRODUCTION: Peripheral nerve injury is a frequently encountered clinical problem that leads to functional losses at the long-term. Although microsurgical repair has been introduced to clinical practice in peripheral nerve injuries, unsatisfactory outcomes regarding functional recovery in target organ cause an increasing interest on studies about nerve injury and biology of the recovery in nerve injuries1. MATERIAL AND METHODS: Sciatic nerves of seventy adult Sprague Dewly rats were transected and primary anastomosis was performed. Rats were then divided into three groups: Control group, while 30 rats were repaired with sutures, and the remaining 30 were repaired with fibrin glue. After 30 days the rats were sacrified and the sciatic nerves were investigated histologically with morphometrical and statistical analyses. RESULTS: In microsurgical nerve repair, suture placement has been thought to cause hindrance to the sprouting axons and compress the blood supply to the fascicles, thereby impairing the regeneration of the transected nerve ends after repair, with possible neuroma formation. On the other hand, fibrin glue is a simple, effective technique, less time consuming than suturing. Another advantage of this suture-free technique is that it avoids injuring the axon with needles, and the lack of foreign bodies minimizes the inflammatory reaction. CONCLUSION: We recommend using fibrin glue as it demonstrates less inflammatory reaction, less scar tissue formation, it is less time consuming and provides better outcomes.

Atlas-based knee osteophyte assessment with ultrasonography and radiography: relationship to arthroscopic degeneration of articular cartilage.

OBJECTIVES: To investigate intra- and inter-reader agreement of ultrasonography (US) and conventional radiography (CR) for the evaluation of osteophyte presence and size within the tibiofemoral joint. In addition, to correlate these findings with arthroscopic degeneration of the articular cartilage. METHOD: Forty adult patients with knee pain were enrolled in this study. Knee CR and US scanning of the medial and lateral bone margins were performed on all patients. A novel atlas for the US grading of knee osteophytes was used in the evaluation. The number and size of the osteophytes were evaluated semi-quantitatively in two rounds from both the CR images (four readers) and the US images (14 readers). The Noyes grading system was used for the evaluation of arthroscopic degeneration of the articular cartilage in 26 patients. RESULTS: On average, intra- and inter-reader US and CR agreement was substantial and comparable to each other (κ = 0.60-0.72). US detected more osteophytes than CR at both the medial (65% vs. 48%) and lateral (70% vs. 60%) compartments. A statistically significant correlation between CR- or US-based osteophyte and arthroscopy grades was observed only for US at the medial compartment (rs = 0.747, p < 0.001). CONCLUSIONS: The detection of knee osteophytes using the novel US atlas is as reproducible as reading conventional radiographs. US is more sensitive to detect knee osteophytes than CR. Furthermore, osteophytes detected with US correlate significantly with arthroscopic cartilage changes at the medial knee compartment whereas those detected by CR do not.

Targeting methionyl tRNA synthetase: design, synthesis and antibacterial activity against Clostridium difficile of novel 3-biaryl-N-benzylpropan-1-amine derivatives.

The synthesis of a series of benzimidazole-N-benzylpropan-1-amines and adenine-N-benzylpropan-1-amines is described. Subsequent evaluation against two strains of the anaerobic bacterium Clostridium difficile was performed with three amine derivatives displaying MIC values of 16 µg/mL. Molecular docking studies of the described amines determined that the amines interact within two active site pockets of C. difficile methionyl tRNA synthetase with methoxy substituents in the benzyl ring and an adenine biaryl moiety resulting in optimal binding interactions.

Tunneled Hemodialysis Catheter Removals by Non-Interventional Nephrologists: The University of Mississippi Experience.

Bedside removal of tunneled hemodialysis catheters (TDC) by noninterventional Nephrologists has not been frequently performed or studied. We performed a retrospective review of bedside TDC removal at the University of Mississippi Medical Center between January, 2010 and June, 2013. We collected data on multiple patients and procedure-related variables, success, and complications rates. Of the 138 subjects, mean age was 50 (±15.9) years, 49.3% were female, 88.2% African American and 41% diabetics. Site of removal was the right internal jugular (IJ) in 76.8%, the left IJ in 15.2%, and the femoral vein in 8% of patients. Exactly 44.9% of removals took place in the outpatient setting. Main indications for the removal were proven bacteremia in 30.4%, sepsis or clinical concerns for infection in 15.2% of the cases, while TDC was no longer necessary in 52.2% of patients. All removals were technically successful and well tolerated, but we observed Dacron "cuff" separation and subcutaneous retention in 6.5% of the cases. There was a significant association between outpatient removal and cuff retention (p = 0.007), but not with the site of removal or operator experience. In this relatively large mixed cohort of inpatients and outpatients, bedside TDC removal was well tolerated with a minimal complication rate.

The genomes of the fungal plant pathogens Cladosporium fulvum and Dothistroma septosporum reveal adaptation to different hosts and lifestyles but also signatures of common ancestry.

We sequenced and compared the genomes of the Dothideomycete fungal plant pathogens Cladosporium fulvum (Cfu) (syn. Passalora fulva) and Dothistroma septosporum (Dse) that are closely related phylogenetically, but have different lifestyles and hosts. Although both fungi grow extracellularly in close contact with host mesophyll cells, Cfu is a biotroph infecting tomato, while Dse is a hemibiotroph infecting pine. The genomes of these fungi have a similar set of genes (70% of gene content in both genomes are homologs), but differ significantly in size (Cfu >61.1-Mb; Dse 31.2-Mb), which is mainly due to the difference in repeat content (47.2% in Cfu versus 3.2% in Dse). Recent adaptation to different lifestyles and hosts is suggested by diverged sets of genes. Cfu contains an α-tomatinase gene that we predict might be required for detoxification of tomatine, while this gene is absent in Dse. Many genes encoding secreted proteins are unique to each species and the repeat-rich areas in Cfu are enriched for these species-specific genes. In contrast, conserved genes suggest common host ancestry. Homologs of Cfu effector genes, including Ecp2 and Avr4, are present in Dse and induce a Cf-Ecp2- and Cf-4-mediated hypersensitive response, respectively. Strikingly, genes involved in production of the toxin dothistromin, a likely virulence factor for Dse, are conserved in Cfu, but their expression differs markedly with essentially no expression by Cfu in planta. Likewise, Cfu has a carbohydrate-degrading enzyme catalog that is more similar to that of necrotrophs or hemibiotrophs and a larger pectinolytic gene arsenal than Dse, but many of these genes are not expressed in planta or are pseudogenized. Overall, comparison of their genomes suggests that these closely related plant pathogens had a common ancestral host but since adapted to different hosts and lifestyles by a combination of differentiated gene content, pseudogenization, and gene regulation.

A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION.

Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies including hypertelorism, large anterior fontanel, and intellectual disability. A 2½-year-old Egyptian girl was referred because of cleft palate and dysmorphic features. She showed clinical manifestations of duplication of 7p, along with atypical features of corpus callosum hypogenesis and skeletal anomalies. Chromosome analyses revealed unbalanced translocations involving the short arms of chromosomes 7 and 20 due to malsegregation of a paternal balanced translocation 7;20. Fluorescence in situ hybridization analysis (FISH) of the female patient showed partial trisomy 7p and a subtelomeric monosomy 20p. Thus, the karyotype of our patient is 46,XX,der(20) (7pter --> 7p13::20p13 --> 20qter). In this report, we present the clinical phenotype of this patient with duplication of 7p and review the literature.

Myconanoparticles: synthesis and their role in phytopathogens management.

Nanotechnology can offer green and eco-friendly alternatives for plant disease management. Apart from being eco-friendly, fungi are used as bio-manufacturing units, which will provide an added benefit in being easy to use, as compared to other microbes. The non-pathogenic nature of some fungal species in combination with the simplicity of production and handling will improve the mass production of silver nanoparticles. Recently, a diverse range of fungi have been screened for their ability to create silver nanoparticles. Mycosynthesis of gold, silver, gold-silver alloy, selenium, tellurium, platinum, palladium, silica, titania, zirconia, quantum dots, usnic acid, magnetite, cadmium telluride and uraninite nanoparticles has also been reported by various researchers. Nanotechnological application in plant pathology is still in the early stages. For example, nanofungicides, nanopesticides and nanoherbicides are being used extensively in agriculture practices. Remote activation and monitoring of intelligent nano-delivery systems can assist agricultural growers of the future to minimize fungicides and pesticides use. Nanoparticle-mediated gene transfer would be useful for improvement of crops resistant to pathogens and pest. This review critically assesses the role of fungi in the synthesis of nanoparticles, the mechanism involved in the synthesis, the effect of different factors on the reduction of metal ions in developing low-cost techniques for the synthesis and recovery of nanoparticles. Moreover, the application of nanoparticles in plant disease control, antimicrobial mechanisms, and nanotoxicity on plant ecosystem and soil microbial communities has also been discussed in detail.

Terminal 2q deletion and partial trisomy chromosome 15q: a clinical and cytogenetic study.

We report on a 5 years old female patient with a karyotype 46, XX, add (2), t(2;15) (q37;q22) associated with dysmorphic facial features, digital deformities, heart defect (mild mitral regurge) and severe mental retardation. This is the third reported case worldwide on the terminal 2q deletion and trisomy of chromosome 15q syndrome. The findings in this case and our literature review, delineates the pattern of malformations secondary to trisomy of 15q and deletion of 2q.